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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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0Y0000

  • Agostini J M S, Cavalli I J, Erdtmann B, Mattevi M S.: Population and familial studies on the variability of the heterochromatic and euchromatic segments of the human Y chromosome. Braz. J. Genet. 12:405-418, 1989.
    Father-son pairs of Caucasian and Japanese extraction were studied for Y variability.
    Aberration: Marker chromosome
    No band
  • Alexander D S, Soudek D, Laraya P: Unstable dicentric Iso (Yq) chromosome in a pseudohermaphrodite. AJMG 1:265-269, 1978. [PubMed: 567011]
    Patient J. S. in this report. He had ambiguous genitalia, uterus, tubes, and bilaterally undescended testes.
    mos 45,X/46,X,dic i(Yq)/47,X,i(Yq)i(Yq).
    Aberration: IC,DI
    Index Terms: Genitalia ... ambiguous,Pseudohermaphroditism,Testes ... undescended (cryptorchidism)
    No band
  • Alliet J, Leporrier N, Lebris C, Gourdier D: Prenatal diagnosis of a mosaic 46,XY/47,X,i(Xq)Y. Prenat. Diag. 9:61-65, 1989. [PubMed: 2748552]
    mos46,XY/47,X,i(Xq)Y.
    Aberration: Isochromosome
    Index Terms: Klinefelter syndrome
    No band
  • Altheide T K, Hammer M F.: Evidence for a possible Asian origin of YAP+ Y chromosomes. AJHG 61:462-466, 1997. [PMC free article: PMC1715891] [PubMed: 9311756]
    Hammer M F.: A recent common ancestry for human Y chromosomes. Nature 378:376-378, 1995. [PubMed: 7477371]
    Aberration: Marker chromosome
    No band
  • Armendares S, Buentello L, Salamanca F, Cantu J M: A dicentric Y chromosome without evidence of sex chromosomal mosaicism, 46,XYqdic, in a patient with features of Turner''s syndrome. J. Med. Genet. 9:96-100, 1972. [PMC free article: PMC1469209] [PubMed: 5063516]
    46,X,dic(Y).
    Aberration: Dicentric chromosome
    Index Terms: Turner syndrome
    No band
  • Bara L, Perici M, Martinovi Klari I, Rootsi S, Janicijevi B, Kivisild T, Parik J, Rudan I, Villems R, Rudan P.: Y chromosomal heritage of Croatian population and its island isolates. Europ. J. Hum. Genet. 11:535-542, 2003. [PubMed: 12825075]
    Aberration: Marker chromosome
    Index Terms: Croat(ian)
  • Barbosa A A L, Cavalli I J, Abe K, Santos M G, Azevedo E S.: Family names and the length of the Y chromosome in Brazilian blacks. Braz. J. Genet. 20:93-96, 1997.
    Aberration: Marker chromosome
    Index Terms: Brazilian blacks
  • Benerecetti A S S, Semino O, Passarino G, Torroni A, Brdicka R, Fellous M, Modiano G: The common, Near-Eastern origin of Ashkenazi and Sephardi Jews supported by Y-chromosome similarity. Ann. Hum. Genet. 57:55-64, 1993. [PubMed: 8101437]
    Aberration: Marker chromosome
    Index Terms: Jews Ashkenazi Sephardi
    No band
  • Berger R, Lejeune J, Roy J: Trisomie 21 et Y metacentrique. Ann. Genet. 13:187-197, 1973. [PubMed: 5313146]
    46,X,Yq-.&46,X,der(Yq-)pat.&47,X,der(Yq-)pat,+21.
    No band
  • Bhasin S, Ma K, de Kretser D M.: Y-chromosome microdeletions and male infertility. Ann. Med. 29:261-263, 1997. [PubMed: 9375979]
    No band
  • Birkebaek N H, Andreasen E E, Ramsing M, Henriques U V, Bruun-Petersen G: Normal karyotype in cultured chorionic villus cells, but mosaicism in amniotic and fetal cells. Prenat. Diag. 12:951-953, 1992. [PubMed: 1494548]
    mos45,X/46,XY/46,X,i(Yq)-fetal and amniotic cells.
    Fetus was normal male.
    Aberration: Isochromosome
    No band
  • Book J A, Eilon B, Halbrecht I, Komlos L, Shabtay F: Isochromosome Y 46,X,i(Yq) and female phenotype. Clin. Genet. 4:410-414, 1973. [PubMed: 4751309]
    46,X,i(Yq).
    Aberration: Isochromosome
    No band
  • Breg W R: Personal communication, 1976.
    Fineman R M, Kidd K K, Johnson A M, Breg W R: Increased frequency of heterozygotes for alpha 1 antitrypsin variants in individuals with either sex chromosome mosaicism or trisomy 21. Nature 260:320-321, 1976. [PubMed: 1082990]
    45,X/46,X,t(Y;22)(p11 or q11;q13).,45,X/46,X,t(22pter -> 22q13::Yp11 or Yq11).,The short or long arm of the Y chromosome is translocated to the long arm of chromosome 22. The patient is H-Y antigen positive.
    Aberration: Simple translocation
    Index Terms: Down syndrome (Trisomy 21)
    No band
  • Brogger A, Uerdal T, Larsen F B, Lavik N J: No evidence for a correlation between behaviour and the size of the Y chromosome. Clin. Genet. 11:349-358, 1977. [PubMed: 862212]
    The mean values of the Yf(length of the distal, brightly fluorescent part of Yq)/Yq ratio were not significantly different in the three groups: adolescent psychiatric hospital for hard-to-manage or dangerous, psychotic men, and two ordinary school classes. No phenotypical manifestation of this polymorphism, particularly as regards behaviour, was found.
    Index Terms: Psychiatric problems
    No band
  • Buhler E M: A synopsis of the human Y chromosome. Hum. Genet. 55:145-175, 1980. [PubMed: 7005073]
    No band
  • Bukvic N, Susca F, Gentile M, Tangari E, Ianniruberto A, Guanti G.: An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite. Hum. Genet. 97:453-456, 1996. [PubMed: 8834241]
    mos45,X/46,XY/47,XY,+dic(Y).
    The 29 year old patient had short stature (138cm), hypoplastic uterus and streak gonads that were removed at age 19. She gave birth to a normal child after IVF using an oocyte donated by her sister.
    Aberration: Dicentric chromosome
    Chromosomal Aneuploidy: Yp+
    No band
  • Burgoyne P S: Thumbs down for zinc finger? Nature 342:860-862, 1989. [PubMed: 2512507]
    Page D C, Fisher E M C, McGillivray B, Brown L G: "Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female." Nature 346:279-281, 1990. [PubMed: 1973823]
    Page D C, Mosher R, Simpson E M, Fisher E M C, Mardon G, Pollack J, McGillivray B, de la Chapelle A, Brown L G: The sex-determining region of the human Y chromosome encodes a finger protein. Cell 51:1091-1104, 1987. [PubMed: 3690661]
    Patient WHT1013.
    46,X,t(Y;22).
    The patient was shown to have deletion of intervals 1A2 and 1B, and lacks the most distal 50kb of interval 1A1.
    Aberration: Reciprocal translocation
    MIM#: 490000
    No band
  • Burk R D, Stamberg J, Young K E, Smith K D: Use of repetitive DNA for diagnosis of chromosomal rearangements. Hum. Genet. 64:339-342, 1983. [PubMed: 6311727]
    Burk R D, Szabo P, O''Brien S J, Nash W G, Yu L C, Smith K D: Organization and chromosomal specificity of autosomal homologs of human Y chromosome repeated DNA. Chromosoma 92:225-233, 1985. [PubMed: 2990828]
    No band
  • Cadenas A M, Zhivotovsky L A, Cavalli-Sforza L L, Underhill P A, Herrera R J.: Y-chromosome diversity characterizes the Gulf of Oman. Europ. J. Hum. Genet. 16: 374-386, 2008. [PubMed: 17928816]
    Aberration: Marker chromosome
    Index Terms: Oman
  • Casanova M, Leroy P, Boucekkine C, Weissenbach J, Bishop C, Fellous M, Purrello M, Fiori G, Siniscalco M: A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Science 230:1403-1406, 1985. [PubMed: 2999986]
    No band
  • Cirigliano V, Sherlock J, Conway G, Quilter C, Rodeck C, Adinolfi M.: Rapid detection of chromosomes X and Y aneuploidies by quantitative fluorescent PCR. Prenat. Diag. 19:1099-1103, 1999. [PubMed: 10590424]
    A new marker, X22 (which maps to a region in the Xq/Yq pseudoautosomal region) , has been used in the QF-PCR assays to detect X and Y anomalies along with HPRT and an X-linked marker P39.
  • Cohen M M, Frederick R W, Balkin N E, Simpson S J: The identification of Y chromosome translocations following Distamycin A treatment. Clin. Genet. 19:335-342, 1981. [PubMed: 7197598]
    No band
  • Cooke H J, Brown W R A, Rappold G A: Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature 317:687-692, 1985. [PubMed: 2997619]
    No band
  • Crolla J A, Dennis N R, Jacobs P A: A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man. J. Med. Genet. 29:699-703, 1992. [PMC free article: PMC1016126] [PubMed: 1433228]
    Case 14.
    mos45,X/46,X,+mar(Y)de novo.
    Attempt has been made to correlate the physical findings with the chromosomal abnormality.
    No band
  • Crolla J A, Smith M, Docherty Z: Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with X and Y specific probes. J. Med. Genet. 26:192-194, 1989. [PMC free article: PMC1015582] [PubMed: 2709396]
    46,X,del(Y).
    The 13 year old was mentally retarded, obese, and had poorly developed secondary sexual characteristics.
    Probe pSV2X5 was used to rule out the involvement of the X chromosome. Probes Y84 and pY190 showed the presence of Y centromere and short arm, respectively.
    Chromosomal Aneuploidy: Yq-
    No band
  • Davis R M: Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome. J. Med. Genet. 18:161-195, 1981. [PMC free article: PMC1048703] [PubMed: 7017147]
    No band
  • Deka R, Jin L, Shriver M D, Yu L M, Saha N, Barrantes R, Chakraborty R, Ferrell R E. : Dispersion of human Y chromosome haplotypes based on five microsatellites in global populations. Genom. Res. 6:1177-1184, 1996. [PubMed: 8973912]
    Aberration: Marker chromosome
    No band
  • Dewald G, Stallard R, Al Saadi A, Arnold S, Bader P I, Blough R, Chen K, Elejalde B R, Harris C J, Higgins R R, Hoeltge G A, Hsu W T, Kubic V, McCorquodale D J, Micale M A, Moore J W, Phillips R M, Scheib-Wixted S, Schwartz S, Siembieda S, Strole K, VanTuinen P, Vance G H, Wiktor A, Wise L, Yung J F, Zenger-Hain J, Zinsmeister A. : A multicenter investigation with interphase fluorescence in situ hybridization using X- and Y-chromosome probes. AJMG 76:318-326, 1998. [PubMed: 9545096]
  • Diekmann L, Palm K, Pfeiffer R A, Trautmann U, Scholz W, Schroers E, Vogt P, Kohler M: Multiple minute marker chromosomes derived from Y identified by FISH in an intersexual infant. Hum. Genet. 90:181-183, 1992. [PubMed: 1427776]
    Patient SP 910701.
    mos45,X/46,X,+f(Y) -> 49,X,+4f(Y).
    The child had ambiguous genitalia.
    Aberration: Terminal deletion
    No band
  • Disteche C M, Brown L, Saal H, Friedman C, Thuline H C, Hoar D I, Pagon R A, Page D C: "Molecular detection of a translocation (Y;15) in a 45,X male." Hum. Genet. 74:372-377, 1986. [PubMed: 3793100]
    Patient J. A. showed 45,X karyotype but on molecular studies showed a t(Y;15) translocation on the short arms.
    45,X,t(Y;15).
    Aberration: Simple translocation
    No band
  • Eaaswarkhanth M, Haque I, Ravesh Z, Romero I G, Meganathan P R, Dubey B, Khan F A, Chaubey G, Kivisild T, Tyler-Smith C, Singh L, Thangaraj K.: Traces of sub-Saharan and Middle eastern lineages in Indian Muslim populations. Europ. J. Hum. Genet. 18: 354-363, 2010. [PMC free article: PMC2859343] [PubMed: 19809480]
    The authors find support to a model ''spread of Islam in India was predominantly cultural conversion but still detectable levels of gene flow from outisde, primarily from Iran and Central Asia''.
    Index Terms: Lineages of Indian Muslims
  • Farah S B, Ramos C F, de Mello M, Sartorato E L, Horelli-Kuitunen N, Lopes V L G S, Cavalcanti D P, Hackel C: "Two cases of Y;autosome translocations: a 45,X male and a clinically trisomy 18 patient." AJMG 49:388-392, 1994. [PubMed: 8160730]
    Patient 1:
    45,X,t(Y;15).
    At 6 years of age the patient showed mental retardation, male external genitalia with normal penis and scrotum.
    Patient 2:
    46,X,t(Y;18)(q12;p11.2)de novo.
    Patient had MCA and died at 6 months of age.
    Aberration: Simple translocation
    No band
  • Fechner P Y, Smith K D, Jabs E W, Migeon C J, Berkovitz G D: Partial gonadal dysgenesis in a patient with a marker Y chromosome. AJMG 42:807-812, 1992. [PubMed: 1313209]
    Patient PT 201.
    46,X,marker(Y).
    The patient was evaluated for ambiguous genitalia at birth. Gender assignment was female.
    Also see Berkovitz et al (1991) under 46,XY (Gonadal dysgenesis), Patient # 151.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Yq-
    Index Terms: Gonadal dysgenesis
    No band
  • Fetni R, Krabchi K, Messier P E, Richer C L, Lemieux N.: Characterization by fluorescence and electron microscopy in situ hybridization of a double Y isochromosome. AJMG 63:454-457, 1996. [PubMed: 8737651]
    The 19 year old patient was referred because of primary hypogonadism, and mixed gonadal dysgenesis.
    Blood:mos45,X/46,X,+(Y)(pter->cen->pter)/46,X,+inv dup i(Y)(pter->cen->p11.2::p11.2->cen->pter)/47,X,+(Y)(pter->cen->pter)x2/47,X,+inv dup i(Y)(pter->cen->p11.2::p11.2->cen->pter)x2.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: Yp+
    No band
  • Foote S, Vollrath D, Hilton A, Page D C: The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science 258:60-66, 1992. [PubMed: 1359640]
    Schwartz A, Chan D C, Brown L G, Alagappan R, Pettay D, Disteche C, McGillivray B, de la Chapelle A, Page D C.: Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination. Hum. Mol. Genet. 7:1-11, 1998. [PubMed: 9384598]
    Yp-Xq21 homologous sequences do not recombine during male meiosis.

    Vollrath D, Foote S, Hilton A, Brown L G, Beer-Romero P, Bogan J S, Page D C: The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science 258:52-59, 1992. [PubMed: 1439769]
    No band
  • Fryns J P: Structural abnormalities of the Y-chromosome and craniosynostosis. Clin. Genet. 42:100-101, 1992. [PubMed: 1424229]
    Fryns J P, Cassiman J J, van den Berghe H: Unusual in vivo rearrangements of the Y chromosome with mitotic instability in vitro. Hum. Genet. 44:349-355, 1978. [PubMed: 730174]
    An unusual structural rearrangement of the Y chromosome resulting in seven different cell lines was found in a male infant. Explanation of patient''s karyotype is discussed. The structurally abnormal Y chromosome also appeared to be unstable in vitro.
    Index Terms: Craniosynostosis
    No band
  • Fujimoto A, Boelter W D, Sparkes R S, Lin M S, Battersby K: Monozygotic twins of discordant sex both with 45,X/46,X,idic(Y) mosaicism. AJMG 41:239-245, 1991. [PubMed: 1785642]
    Patient 1 was a female.
    mos45,X(43%)/46,X,idic(Y)-blood.&45,X-skin.
    Patient 2 a male.
    mos45,X(40%)/46,X,idic(Y)-blood and skin.
    Aberration: Isochromosome
    Index Terms: Twins ... monozygotic
    No band
  • Ganshirt D, Pawlowitzki I H: Hae III restriction of DNA from three cases with nonfluorescent Y chromosomes (45XO/46,XYnf). Hum. Genet. 67:241-244, 1984. [PubMed: 6088385]
    No band
  • Gemmill R M, Pearce-Birge L, Bixenman H, Hecht B K, Allanson J E: Y chromosome-specific DNA sequences in Turner-syndrome mosaicism. AJHG 41:157-167, 1987. [PMC free article: PMC1684231] [PubMed: 3475977]
    Four patients were investigated by Y specific probes.
    46,X,+mar.
    Index Terms: Turner syndrome
    No band
  • Genest P, Genest F B: The influence of the length of the human Y chromosome on spontaneous abortions. A prospective study in family lines with inherited polymorphic Y chromosomes. Ann. Genet. 28:143-148, 1985. [PubMed: 3879146]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Guttenbach M, Muller U, Schmid M: Cytogenetic and molecular analysis of a Yq isochromosome. Hum. Genet. 86:147-150, 1990. [PubMed: 2265826]
    mos45,X/46,XY/46,X,i(Yq)/47,XYY/47,XY,i(Yq)/47,X,i(Yq),i(Yq).&mos46,X,i(Yq)(90%)/46,X,+mar(of Y origin)(10%)-EBV transformed cells.
    The 26 year old was investigated because of infertility.
    Aberration: Isochromosome
    No band
  • Hammer M F, Karafet T M, Park H, Omoto K, Harihara S, Stoneking M, Horai S.: Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosome. J. Hum. Genet. DOI=10.1007/s10038-005-0322-0, 2005. [PubMed: 16328082]
    Aberration: Marker chromosome
    Index Terms: Japanese
  • Hammer M F, Spurdle A B, Karafet T, Bonner M R, Wood E T, Novelletto A, Malaspina P, Mitchell R J, Horai S, Jenkins T, Zegura S L.: The geographic distribution of human Y chromosome variation. Genetics 145:787-805, 1997. [PMC free article: PMC1207863] [PubMed: 9055088]
    Aberration: Marker chromosome
  • Hashimoto H, Maruyama H, Koshida R, Okuda N, Murayama K, Katsumi T, Watanabe K, Sato T.: Presence of Turner stigmata in a case of dysgenetic male pseudohermaphroditism with 45,X/46,X+mar karyotype. Arch. Dis. Childhood 76:268-271, 1997. [PMC free article: PMC1717119] [PubMed: 9135271]
    Blood:mos45,X(14 cells)/46,X,del(Y)(:PABY->DYZ3:)
    The newborn had ambiguous genitalia and was reared as a male.
    The deleted Y chromosome consists of most of the short arm, and the centromere but missing most of the long arm.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Yp-;Yq-
    Index Terms: Dysgenetic male pseudohermaphroditism
  • Henegariu O, Pescovitz O H, Vance G H, Verbrugge J, Heerema N A.: A case with mosaic di-, tetra-, and octacentric ring Y chromosomes. AJMG 71:426-429, 1997. [PubMed: 9286449]
    mos45,X[81]/46,X,r(Y)[19].
    There were no signs of Turner syndrome but both gonads were removed.
    Aberration: RI,DI
    Chromosomal Aneuploidy: Yp+;Yq+
    No band
  • Heng H H Q, Ye C J, Yang F, Ebrahim S, Liu G, Bremer S W, Thomas C M, Ye J, Chen T J, Tuck-Muller C, Yu J W, Krawetz S A, Johnson A.: Analysis of marker or complex chromosomal rearrangements present in pre- and post-natal karyotypes utilizing a combination of G-banding, spectral karyotyping and fluorescence in situ hybridization. Clin. Genet. 63:358-367, 2003. [PubMed: 12752567]
    Case 11:t(Y;5).
    Aberration: Simple translocation
  • Jacobs P A, Ross A: Structural abnormalities of the Y chromosome in man. Nature 210:352-354, 1966. [PubMed: 5963227]
    Cases 1 and 2 in this report.
    46,X,i(Yq).
    Aberration: Isochromosome
    No band
  • Jakubowski L, Jeziorowska A, Constantinou M, Kaluzewski B.: Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction. Clin. Genet. 57:291-295, 2000. [PubMed: 10845570]
    Kaluzewski B, Jakubowski L, Debiec-Rychter M, Grzeschik K H, Limon J, Gibas Z: Two mosaic cases with nonfluorescent Y chromosome analysed with Y-specific DNA probes. AJMG 31:489-503, 1988. [PubMed: 3228133]
    Two patients were studied.
    mos45,X/46,XYnf/46,X,dic(Y)/46,X,del(Yq).&mos45,X/46,XYnf/46,X,dic(Y)/46,X,del(Yq)/47,XYnfYnf.
    Aberration: Marker chromosome
    No band
  • Jalal S M, Pfeiffer R A, Pathak S, Hsu T C: Subdivision of the human Y chromosome. Humangenetik 24:59-65, 1974. [PubMed: 4139099]
    The Y chromosome has been subdivided into six bands on the basis of work on not fully condensed chromosomes by Q and C bandings and microdensitometric tracing.
    No band
  • Jobling M A: A survey of long-range DNA polymorphisms on the human Y chromosome. Hum. Mol. Genet. 3:107-114, 1994. [PubMed: 8162012]
    Jobling M A, Bouzekri N, Taylor P G.: Hypervariable digital DNA codes for human paternal lineages: MVR-PCR at the Y-specific minisatellite MSY1 (DYF155S1). Hum. Mol. Genet. 7:643-653, 1998. [PubMed: 9499417]
    Jobling M A, Tyler-Smith C.: Fathers and sons: the Y chromosome and human evolution. Trends in Genet. 11: 449-456, 1995. [PubMed: 8578602]
    Jobling M A, Tyler-Smith C.: New uses for new haplotypes, the human Y chromosome, disease and selection. Trends in Genet. 16:356-362, 2000. [PubMed: 10904265]
    Aberration: Marker chromosome
    No band
  • Karlsson A O, Wallerstrom T, Gotherstrom A, Holmlund G.: Y-chromosome diversity in Sweden - A long-time perspective. Europ. J. Hum. Genet. 14: 963-970, 2006. [PubMed: 16724001]
    Index Terms: Sweden
  • Kayser M, Kittler R, Erler A, Hedman M, Lee A C, Mohyuddin A, Mehdi S Q, Rosser Z, Stoneking M, Jobling M A, Sajantila A, Tyler-Smith C.: A comprehensive survey of human Y-vhromosomal microsatellites. AJHG 74:1183-1197, 2004. [PMC free article: PMC1182082] [PubMed: 15195656]
    Kayser M, Roewer L, Hedman M, Henke L, Henke J, Brauer S, Kruger C, Krawczak M, Nagy M, Dobosz T, Szibor R, de Knijff P, Stoneking M, Sajantila A. : Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. AJHG 66:1580-1588, 2000. [PMC free article: PMC1378017] [PubMed: 10762544]
    Mathias N, Bayes M, Tyler-Smith C: Highly informative compound haplotypes for the human Y chromosome. Hum. Mol. Genet. 3:115-123, 1994. [PubMed: 7909247]
    Zerjal T, Dashnyam B, Pandya A, Kayser M, Roewer L, Santos F R, Schiefenhovel W, Fretwell N, Jobling M A, Harihara S, Shimizu K, Semjidmaa D, Sajantila A, Salo P, Crawford M H, Ginter E K, Evgrafov O V, Tyler-Smith C.: Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis. AJHG 60:1174-1183, 1997. [PMC free article: PMC1712423] [PubMed: 9150165]
    A new T->C mutation was identified and is thought to have originated in Asia.
    No band
  • Kent-First M G, Kol S, Muallem A, Blazer S, Itskovitz-Eldor J.: Infertility in intracytoplasmic-sperm-injection-derived sons. Lancet 348:332, 1996. [PubMed: 8709700]
    Kostiner D R, Turek P J, Reijo R A.: Male infertility: analysis of the markers and genes on the human Y chromosome. Hum. Reprod. 13:3032-3038, 1998. [PubMed: 9853850]
    Menke D B, Mutter G L, Page D C.: Expression of DAZ, an Azoospermia Factor Candidate, in human spermatogonia. AJHG 60:237-241, 1997. [PMC free article: PMC1712565] [PubMed: 8981970]
    Reijo R, Alagappan R K, Patrizio P, Page D C.: Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet 347:1290, 1996. [PubMed: 8622504]
    Vergnaud G, Page D C, Simmler M C, Brown L, Rouyer F, Noel B, Botstein D, de la Chapelle A, Weissenbach J: A deletion map of the human Y chromosome based on DNA hybridization. AJHG 38:109-124, 1986. [PMC free article: PMC1684749] [PubMed: 3004206]
    No band
  • Kistenmacher M L: Personal communication, 1978.
    45,X/46,X,iso(Y).
    Aberration: Isochromosome
    No band
  • Kozma R, Adinolfi M: In situ fluorescence hybridization of Y translocations: cytogenetic analysis using probes Y190 and Y431. Clin. Genet. 33:156-161, 1988. [PubMed: 2896077]
    Several suspected Y-autosome translocations were confirmed and others that were hypothesied were also confirmed.
    t(Y;10);t(Y;13);t(Y;15); and XX male.
    Aberration: Simple translocation
    No band
  • Kozma R, Fear C, Adinolfi M: Flourescence in situ hybridization and Y ring chromosome. Hum. Genet. 80:95-96, 1988. [PubMed: 3417311]
    46,X,r(Y).
    Patient was referred because of aspermia.
    Y-specific probe Y-190 was used to document duplication of short arms.
    Aberration: Ring chromosome
    No band
  • Kratzer P G, Golbus M S, Schonberg S A, Heilbron D C, Taylor R N: Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. AJMG 44:657-663, 1992. [PubMed: 1481829]
    46,X,i(Yq).
    Aberration: Isochromosome
    No band
  • Kremer J A M, Tuerlings J H A M, Meuleman E J H, Schoute F, Mariman E, Smeets D F C M, Hoefsloot L H, Braat D D M, Merkus H M W M.: Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from gene to clinic. Hum. Reprod. 12:687-691, 1997. [PubMed: 9159425]
    Microdeletions in the AZFc region were found in 7/111 oligozoospermic and in none of the 19 azoospermic men and 34 normozoospermic men.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: Yq-
    Index Terms: Intracytoplasmic sperm injection (ICSI)
  • Kuroki Y, Iwamoto T, Lee J, Yoshiike M, Nozawa S, Nishida T, Ewis A A, Nakamura H, Toda T, Tokunaga K, Kotliarova S E, Kondoh N, koh E, Namiki M, Shinka T, Nakahori Y.: Spermatogenic ability is different among males in different Y chromosome lineage. J. Hum. Genet. 44:289-292, 1999. [PubMed: 10496069]
    Ogata T, Tomita K, Hida A, Matsuo N, Nakahori Y, Nakagome Y.: Chromosomal localisation of a Y specific growth gene(s). J. Med. Genet. 32:572-575, 1995. [PMC free article: PMC1050556] [PubMed: 7562976]
    It is suggested that the region defined by DYS11 at interval 5C and by DYS246 at interval 5D may be the critical region for these genes.
    Index Terms: Growth gene(s)
    No band
  • Lell J T, Brown M D, Schurr T G, Sukernik R I, Starikovskaya Y B, Torroni A, Moore L G, Troup G M, Wallace D C.: Y chromosome polymorphisms in Native Americans and Siberian populations: identification of Native American Y chromosome haplotypes. Hum. Genet. 100:536-543, 1997. [PubMed: 9341867]
  • Linares A R, Nayar K, Goldstein D B, Hebert J M, Seielstad M T, Underhill P A, Lin A A, Feldman M W, Cavalli-Sforza L L.: Geographic clustering of human Y-chromosome haplotypes. Ann. Hum. Genet. 60:401-408, 1996. [PubMed: 8912793]
    Underhill P A, Jin L, Zemans R, Oefner P J, Cavalli-Sforza L L. : A pre-Columbian Y chromosome-specific transition and its implications for human evolutionary history. PNAS 93: 196-200, 1996. [PMC free article: PMC40205] [PubMed: 8552603]
    A polymorphic C->T mutation was found at the DYS19 locus which may have occurred 30,000 years ago.
    Aberration: Marker chromosome
    No band
  • Lin C C, Meyne J, Sasi R, Bowen P, Unger T, Tainaka T, Hadro T A, Hoo J J: Determining the origins and the structural aberrations of small marker chromosomes in two cases of 45,X/46,X,+mar by use of 45,X/46,X,+mar by use of chromosome-specific DNA probes. AJMG 37:71-78, 1990. [PubMed: 2240047]
    Patient 1 (S.M.)
    Patient 2 (C.L.).
    No band
  • Lonberg N C, Erlendsson J, Nielsen J, Saldana-Garcia P, Philip J: Ischromosome Yq in a woman with atypical Turner''s syndrome. Hum. Genet. 38:49-55, 1977. [PubMed: 561748]
    18 y.o. patient with gastrointestinal hemorrhage, probably due to intestinal teleangiectasiae, nanismus and retarded sexual development is presented.
    46,X,i(Yq).
    Aberration: Isochromosome
    Index Terms: Hemorrhage ... gastrointestinal,Nanismus,Telangiectasiae ... intestinal,Turner syndrome
    No band
  • Lucotte G, Guerin P, Halle L, Loirat F, Hazout S: Y chromosome DNA polymorphisms in two African populations. AJHG 45:16-20, 1989. [PMC free article: PMC1683369] [PubMed: 2568089]
    No band
  • Lukusa T, Fryns J P, van den Berghe H: Gonadoblastoma and Y-chromosome fluorescence. Clin. Genet. 29:311-316, 1986. [PubMed: 3720008]
    It is suggested that alterations of the charactersitic distal fluorescence of Yq may protect the dysgenetic gonad against tumoral degeneration in patients with 45,X/46,XYnf mosaicism.
    Index Terms: Gonadoblastoma
    No band
  • Machev N, Saut N, Longepied G, Terriou P, Navarro A, Levy N, Guichaoua M, Metzler-Guillemain C, Collignon P, Frances A-M, Belougne J, Clemente E, Chiaroni J, Chevillard C, Durand C, Ducourneau A, Pech N, McElreavey K, Mattei M-G, Mitchell M J.: Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility. J. Med. Genet. 41:814-825, 2004. [PMC free article: PMC1735624] [PubMed: 15520406]
    McElreavey K, Krausz C.: Male infertility and the Y chromosome. AJHG 64:928-933, 1999. [PMC free article: PMC1377815] [PubMed: 10090876]
    Quintana-Murci L, Krausz C, Heyer E, Gromoll J, Seifer I, Barton D E, Barrett T, Skakkebaek N E, Rajpert-De Meyts E, Mitchell M, Lee A C, Jobling M A, McElreavey K.: The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility. Hum. Genet. 108:55-58, 2001. [PubMed: 11214908]
    Rosser Z H, Balaresque P, Jobling M A.: Gene conversion between the X chromosome and the male-specific region of the Y chromosome at a translocation hotspot. AJHG 85: 130-134, 2009. [PMC free article: PMC2706966] [PubMed: 19576564]
  • Magenis R E, Donlon T A: Nonfluorescent Y chromosomes. Cytologic evidence of origin. Hum. Genet. 60:133-138, 1982. [PubMed: 7076253]
    No band
  • Magnelli N C, Vianna-Morgante A M, Frota-Pessoa O, Tabooda-Lopez M G: Turner''s syndrome and 46,X,i(Yq) karyotype. J. Med. Genet. 11:403-406, 1974. [PMC free article: PMC1013219] [PubMed: 4443992]
    Moreira-Filho C A, Otto P G, Frota-Pessoa O: H-Y gene expression in apparent absence of the long arm of the Y chromosome. AJMG 4:135-139, 1979. [PubMed: 117709]
    45,X/46,X,i(Yp).&A phenotypic male was H-Y antigen positive.
    Aberration: Isochromosome
    Index Terms: Turner syndrome
    No band
  • Manuel M, Katayama K P, Jones H W: The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. Am. J. Obst. Gynecol. 124:293-300, 1976. [PubMed: 1247071]
    Park I J, Heller R H, Jones H W, Woodruff J D: Apparent pseudopuberty in a phenotypic female with a gonadal tumor and an autosome/Y chromosome translocation. Am. J. Obst. Gynecol. 119:661-668, 1974. [PubMed: 4834391]
    45,X,-16,+t(Yq16q)/46,XYq-,-16,+t(Yq16q).&Extensive discussion, based on authors own experience and a review of the literature on this very interesting and important aspect can be found in this report.
    Aberration: Simple translocation
    Index Terms: Cancer ... gonadal tumors,Gonadal dysgenesis,Tumors ... neoplasia, gonadal
    No band
  • Matsuda T, Nonomura M, Okada K, Hayashi K, Yoshida O: Cytogenetic survey of subfertile males in Japan. Urol. Internat. 44:194-197, 1989. [PubMed: 2800053]
    46,X,iso(Yp).
    Male with azoospermia was studied.
    Aberration: Reciprocal translocation
    Index Terms: Azoospermia
    No band
  • McDonough P G, Tho S P T, Trill J J, Byrd J R, Reindollar R H, Tischfield J A: Use of two different deoxyribonucleic acid probes to detect Y chromosome deoxyribonucleic acid in subjects with normal and altered Y chromosomes. Am. J. Obst. Gynecol. 154:737-748, 1986. [PubMed: 3008557]
    McDonough P G.: The Y-chromosome and reproductive disorders. Reprod. Fert. Dev. 10:1-16, 1998. [PubMed: 9727588]
    No band
  • McKay R D G, Bobrow M, Cooke H J: The identification of a repeated DNA sequence involved in the karyotype polymorphism of the human Y chromosome. Cytogenet. Cell Genet. 21:19-32, 1978. [PubMed: 648195]
    There are no dectectable alterations in the two different repeated DNA sequences between polymorphic individuals other than the amount.
    No band
  • Meisner L F, Inhorn S L: Normal male development with Y chromosome long arm deletion (Yq-). J. Med. Genet. 19:373-377, 1972. [PMC free article: PMC1469120] [PubMed: 5079110]
    46,X,del(Y)(q11:) or 46,X,i(Yp).
    Aberration: TD,IC
    No band
  • Micic M D, Micic S R, Babic M, Diklic V: Phenotype of two males with abnormal Y chromosomes. Clin. Genet. 37:321-326, 1990. [PubMed: 2354546]
    Patient S.B.
    mos45,X/46,X,i(Yq).
    Patient S.S.
    mos45,X/46,X,r(Y)/46,X,dic r(Y).
    Both men were worked up due to their infertility problems.
    Aberration: RI,DI
    No band
  • Muller C R, Davies K E, Cremer C, Rappold G A, Gray J W, Ropers H H: Cloning of genomic sequences from the human Y chromosome after purification by dual beam flow sorting. Hum. Genet. 64:110-115, 1983. [PubMed: 6885043]
    No band
  • Muller U, Donlon T A, Kunkel S M, Lalande M, Latt S A: Y-190, a DNA probe for the sensitive detection of Y-derived marker chromosomes and mosaicism. Hum. Genet. 75:109-113, 1987. [PubMed: 3469135]
    No band
  • Munke M, de Martinville B, Lieber E, Francke U: Minute chromosomes replacing the Y chromosome carry Y-specific sequences by restriction fragment analysis and in situ hybridization. AJMG 22:361-374, 1985. [PubMed: 2996350]
    Two patients are described.
    Patient 1: 46,X,min,15p+.&Patient 2: 46,X,min.
    Aberration: Terminal deletion
    No band
  • Nagafuchi S, Seki S, Nakahori Y, Tamura T, Numabe H, Nakagome Y: PCR detection of structurally abnormal Y chromosomes. Jpn. J. Hum. Genet. 37:187-193, 1992. [PubMed: 1472700]
    Nagafuchi S, Tamura T, Nakahori Y, Takano K, Nishi Y, Iwatani N, Kitao M, Hori Y, Konda S, Hasegawa T, Numabe H, Fujieda K, Tanaka T, Hibi I, Nakagome Y: The majority of the marker chromosomes in Japanese patients with stigmata of Turner syndrome are derived from Y chromosomes. Hum. Genet. 89:590-592, 1992. [PubMed: 1511974]
    Sekine T, Fukutani K, Motegi T, Hayakawa H, Tamura T, Nagafuchi S, Nakahori Y, Nakagome Y: DNA analysis of two patients with a non-fluorescent Y chromosome. Jpn. J. Hum. Genet. 37:157-162, 1992. [PubMed: 1391971]
    Patient 1 (case 877).
    mos45,X/46,X,psu dic(Y)(pter->cen->q11.23::q11.23->pter)?
    The patient was karyotyped because of low birth weight and short stature.
    The gonadoblastoma locus, GBY, is mapped proximal to DYS132, midway between the 13 Yq loci that have been studied.
    Patient 2 (case 878).
    mos45,X/46,X,del(Y)(q1105:).
    The 20 year old female was referred because of primary amenorrhea and short stature.
    Aberration: DI,TD
    Index Terms: Gonadoblastoma
    No band
  • Palmer M S, Sinclair A H, Berta P, Ellis N A, Goodfellow P N, Abbas N E, Fellous M: Genetic evidence that ZFY is not the testis-determining factor. Nature 342:937-939, 1989. [PubMed: 2594087]
    Patients ZM, MB, DL, TL, WHT1013, and LGL203.
    46,XX.&"46,X,t(Y;22)."
    Sex-reversed individuals.
    It is suggested that the TDF region location must be redefined.
    Index Terms: Testis determining factor
    No band
  • Patsalis P C, Skordis N, Sismani C, Kousoulidou L, Koumbaris G, Eftychi C, Stavrides G, Ioulianos A, Kitsiou-Tzeli S, Galla-Voumvouraki A, Kosmaidou Z, Hadjiathanasiou C G, McElreavey K.: Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome insatbility. AJMG Part A DOI=10.1002/ajmg.a.30712; 135A:145-149, 2005. [PubMed: 15880425]
    Patsalis P C.: Correspondence-Response to the Alvarez Nava and Puerta "Y-chromosome microdeletions in 45,X/46,XY patients". AJMG Part A DOI=10.1002/ajmg.a.31230, 2006. [PubMed: 16642504]
    17 patients were studied: 13 phenotypic females diagnosed with Turner syndrome, 2 had sexual ambiguinity (mixed gonadal dysgenesis), and 2 had male phenotype.
    All had a mosaic 45,X cell line. The Y chromosome was present in different forms and proportions (7% to 95%).
    Aberration: TD,ST
    Chromosomal Aneuploidy: Yp-;Yq-
  • Pellestor F, Girardet A, Lefort G, Andreo B, Charlieu J P.: Use of the primed in situ labelling (PRINS) technique for a rapid detection of chromosomes 13, 16, 18, 21, X and Y. Hum. Genet. 95:12-17, 1995. [PubMed: 7814017]
    Index Terms: PRINS
    No band
  • Peterlin B, Kunej T, Hristovski D.: Diagnostic test for Y chromosome microdeletion screening in male infertility. Genet. Testing 8:45-49, 2004. [PubMed: 15140373]
    These authors developed a computerized procedure and estimate that 85.6% of all published Y chromosome microdeletions can be covered by a set of 6 genetic markers (sY84, sY127, sY152, RBMY1, sY147, sY254-DAZ).
    Aberration: Interstitial deletion
    MIM#: 415000
    Index Terms: AZF deletions
  • Ploski R, Wozniak M, Pawlowski R, Monies D M, Branicki W, Kupiec T, Kloosterman A, Dobosz T, Bosch E, Nowak M, Lessig R, Jobling M A, Roewer L, Kayser M.: Homogeneity and distinctiveness of Polish paternal lineages revealed by Y chromosome microsatellite haplotype analysis. Hum. Genet. 110:592-600;DOI=10.1007/s00439-002-0728-0, 2002. [PubMed: 12107446]
    Aberration: Marker chromosome
    Index Terms: Pol(ish) Y chromosome
  • Queipo G, Nieto K, Grether P, Frias S, Alvarez R, Palma I, Erana L, Pena Y R, Kofman-Alfaro S.: Unusual mixed gonadal dysgenesis associated with Mullerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype. AJMG 136A:386-389, 2005. [PubMed: 16007601]
    45,(X)[6]/46,XY[94]. It was noted that the father had a normal Y and the patient''s Y was much smaller.,Revised karyotype=45,X/46,X,idic(Y)(p).
    A newborn with a 2cm pahllus, perimeal hypospadias, bifid scrotum, labio-scrotal folds and a urogenital sinus.
    Aberration: IC,DI
    Index Terms: Polygonadia,Mullerian duct
  • Qu J, Dallaire L, Fetni R, Richer C L: Prenatal identification of a 45,X/46,Xder(Y) mosaicism and confirmation by high resolution cytogenetics and fluorescence in situ hybridization. Prenat. Diag. 12:909-917, 1992. [PubMed: 1494544]
    mos45,X/46,Xinvdup(Y)(qter -> q12.11::p11.3 -> qter) or mos45,X/46,Xt(Y;Y)(p11.3;q12.11).
    The one year old male child is with normal limits.
    Aberration: Simple translocation
    No band
  • Reijo R, Lee T Y, Salo P, Alagappan R, Brown L G, Rosenberg M, Rosen S, Jaffe T, Straus D, Hovatta O, de la Chapelle A, Silber S, Page D C.: Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genet. 10:383-393, 1995. [PubMed: 7670487]
    Silber S J, Alagappan R, Brown L G, Page D C.: Y chromosome deletions in azoospermic and severely oligozoospermic men undergoing intracytoplasmic sperm injection after testicular sperm extraction. Hum. Reprod. 13:3332-3337, 1998. [PubMed: 9886509]
    Silber S J, Liu J, Van Steirteghem A, Tournaye H, Nagy Z, Devroey P.: Reply to the Letter to the Editor by Tripp et al. Fert. Steril. 67:408-409, 1997.
    Followed by an interesting Editorial Comment from Dr. Paul G. McDonough.
    In the 1998 paper, the authors examined 51 azoospermic men undergoing ICSI after TESE (testicular sperm extraction) and 30 men with severe oligozoospermia undergoing ICSI after ejaculation of spermatozoa. The results support the concept that, in azoospermic or oligozoospermic men with Y chromosome deletions limited to intervals 6D-6F (AZFc), there are generally very small numbers of testicular or ejaculated spermatozoa. Larger Y deletions, including and extending beyond the AZFc region and encompassing more Y genes, tend to be associated with a total absence of testicular spermatozoa. In those cases where spermatozoa were retrieved, the presence of Y deletions had no obviuos impact on fertilization or pregnancy rate.
    In the study reported in 1995, 89 subjects with azoospermia were studied.
    Deletion of the AZF region (the azoospermia factor) is associated with highly variable testicular defects. The region contains a single-copy gene DAZ (Deleted in AZoospermia), which is transcribed in the adult testis and encodes an RNA binding protein. That the DAZ is AZF is a possibility.
    No Y deletions were detected in their male relatives.
    Aberration: ID,TD
    MIM#: 415000
    Chromosomal Aneuploidy: Yp-,Yq-
    Index Terms: Spermatog(enic) defects
    No band
  • Repping S, van Daalen S K M, Brown L G, Korver C M, Lange J, Marszalek J D, Pyntikova T, van der Veen F, Skaletsky H, Page D C, Rozen S.: High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nature Genet. 38: 463-467, 2006. [PubMed: 16501575]
    Skaletsky H, Kuroda-Kawaguchi T, Minx P J, Cordum H S, Hillier L, Brown L G, Repping S, Pyntikova T, Ali J, Bier T, Chinwalla A, Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R, Graves T, Hou S-F, Latrielle P, Leonard S, Mardis E, Maupin R, McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S, Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang S-P, Waterson R H, Wilson R K, Rozen S, Page D C. : The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825-837, 2003. [PubMed: 12815422]
    Willard H F.: Genome biology: Tales of the Y chromosome. Nature 423:810-813, 2003. [PubMed: 12815408]
    Aberration: Marker chromosome
  • Richer C L, Drounin R, Fitch N: Y chromosome R-bands. Hum. Genet. 67:240, 1984. [PubMed: 6745949]
    No band
  • Roewer L, Arnemann J, Spurr N K, Grzeschik K H, Epplen J T: Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts. Hum. Genet. 89:389-394, 1992. [PubMed: 1618488]
    Aberration: Marker chromosome
    Index Terms: Repeat sequences
    No band
  • Roots S, Zhivotovsky L A, Baldovic M, kayser M, Kutuev I A, Khusainova R, Bermisheva M A, Gubina M, Federova S A, Ilumae A-M, Khusnutdinova E K, Voevoda M I, Osipova L P, Stoneking M, Lin A A, Ferak V, Parik J, Kivisild T, Underhill P A, Villems R.: A counter-clockwise northern route of the Y-chromosome haplogroup N from Southeast Asia towards Europe. Europ. J. Hum. Genet. 15: 204-211, 2007. [PubMed: 17149388]
    Sengupta S, Zhivotovsky L A, King R, Mehdi S Q, Edmonds C A, Chow C-E T, Lin A A, Mitra M, Sil S K, Ramesh A, Usha Rani M V, Thakur C M, Cavalli-Sforza L L, Majumdar P P, Underhill P A.: Polarity and temporality of high-resolution Y-chromosome distributions in India identify both indigenous and exogenous expansions and reveal minor genetic influence of central Asian pastoralists. AJHG 78:202-221, 2006. [PMC free article: PMC1380230] [PubMed: 16400607]
    Aberration: Marker chromosome
    Index Terms: India,Southeast Asia (SEAsia)
  • Roubin M, de Grouchy J, Chauveau P, Rappaport R, Pellerin D: Dicentric Y chromosome in a male pseudohermaphrodite, 45,X/46,X,dic(Y)/47,XYY. Ann. Genet. 20:185-189, 1977. [PubMed: 304702]
    45,X/46,X,dic(Y)/47,XYY.
    Subject 030575 was 8-month-old child with male pseudohermaphroditism.
    Aberration: Dicentric chromosome
    Index Terms: Pseudohermaphroditism
    No band
  • Ruthner U, Golob E: 45,X/45,X,ace(?Yp)+/46,X,r(Y) in a phenotypically normal newborn male. Humangenetik 22:177-180, 1974. [PubMed: 4135787]
    Aberration: RI,TD
    No band
  • Santos F R, Pandya A, Tyler-Smith C, Pena S D J, Schanfield M, Leonard W R, Osipova L, Crawford M H, Mitchell R J.: The central Siberian origin for Native American Y chromosomes. AJHG 64:619-628, 1999. [PMC free article: PMC1377773] [PubMed: 9973301]
    Aberration: Marker chromosome
    Index Terms: Y-chromosome haplotypes
    No band
  • Schad C R, Kraker W J, Jalal S M, Tallman M S, Londer H N, Cook L P, Jenkins R B: Use of fluorescent in situ hybridization for marker chromosome identification in congenital and neoplastic disorders. Am. J. Clin. Path. 96:203-210, 1991. [PubMed: 1862775]
    Patient 2.
    mos45,X/46,X,del(Y)/47,X,del(Y),+frag(Y).
    The 11 year old had features of Turner syndrome.
    Index Terms: FISH
    No band
  • Schempp W, Muller U: High resolution replication patterns of the human Y chromosome. Intra- and inter-individual variation. Chromosoma 86:229-237, 1982. [PubMed: 7140473]
    Aberration: Marker chromosome
    No band
  • Schmid M, Gall H, Schempp W, Weber L, Schmidtke J: Characterization of a new aberration of the human Y chromosome by banding methods and DNA restriction endonuclease analysis. Hum. Genet. 59:26-35, 1981. [PubMed: 10819018]
    Case 1(IV-1).
    47,XX,der(Y)pat.
    Case 4 (III-2).
    46,X,aberrant (Y).
    Case 5 (III-3).
    mos46,XY(98%)/47,XYY(2%).&The aberrant Y chromosome may have arisen as a new mutation in III-2 by breakage and reunion between two Y chromosomes or chromatids.
    Cases 2 and 3 (IV-2 and IV-3).
    46,X,der(Y)pat.
    Aberration: Marker chromosome
    No band
  • Schmid M, Poppen A, Schmid W, Engel W: Somatic pairings of the heterochromatin in human XYY and XYqi cells. Cytogenet. Cell Genet. 29:203-214, 1981. [PubMed: 7238123]
    No band
  • Schmidtke J, Arnemann J, Schmid M, Baum F, Mayerova A, Langenbeck U, Hansmann I: A male with a monocentric Yq isochromosome and presence of a Yp-specific DNA sequence. Hum. Genet. 69:135-137, 1985. [PubMed: 3972415]
    It is "assumed that a Yp fragment of a size below the threshold of cytogenetic detectability carries the DXYS1 locus and is integrated in a single dose into the Y chromosome, the X chromosome, or an autosome".
    Aberration: Isochromosome
    No band
  • Shankman S, Spurdle A B, Morris D, Rosendorff J, Marques I, Bernstein R, Ramsay M.: Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies. AJMG 55:269-275, 1995. [PubMed: 7726221]
    Patient MB, a female.
    mos45,X/46,X,i(Yq).
    Aberration: IC,ST
    Chromosomal Aneuploidy: Yq+
    No band
  • Siebers J W, Vogel W, Hepp H, Bolze H, Dittrich A: Structural aberrations of the Y chromosome and the corresponding phenotype. Report of a case with the karyotype 45,X/46,X,i(Yp). Humangenetik 19:57-66, 1973. [PubMed: 4725910]
    45,X/46,X,i(Yp).,A good review on the localization of sex-determining factors on the Y chromosome.
    Aberration: Isochromosome
    No band
  • Simmler M C, Rouyer F, Vergnaud G, Nystrom-Lahti M, Ngo K Y, de la Chapelle A, Weissenbach J: Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature 317:692-697, 1985. [PubMed: 2997620]
    No band
  • Speleman F, Van der Auwera B, Mangelschots K, Vercruyssen M, Raap T, Wiegant J, Craen M, Leroy J: Identification and characterization of normal length nonfluorescent Y chromosomes: cytogenetic analysis, Southern hybridization and non-isotopic in situ hybridization. Hum. Genet. 85:569-575, 1990. [PubMed: 2227946]
    Patients 1 and 2.
    mos45,X/46,XYnf psu dic(Y)nf.
    Initially interpreted as mos45,X/46,X,+mar.
    Aberration: Dicentric chromosome
    No band
  • Sulica L O, Borgaonkar D S, Shah S A: Accurate identification of the human Y chromosome. Clin. Genet. 5:17-27, 1974. [PubMed: 4275660]
    No band
  • Tantravahi U, Bianchi D W, Haley C, Destrempes M M, Ricker A T, Korf B R, Latt S A: Use of Y chromosome specific probes to detect low level sex chromosome mosaicism. Clin. Genet. 29:445-448, 1986. [PubMed: 3742851]
    Patient P.V. was 3 years old and a true hermaphrodite.
    mos(?)46,XX/69,XXY.
    Index Terms: Hermaphrodism ... true
    No band
  • Taylor K, Hornigold N, Conway D, Williams D, Ulinowski Z, Agochiya M, Fattorini P, de Jong P, Little P F R, Wolfe J.: Mapping the human Y chromosome by fingerprinting cosmid clones. Genome Res. 6:235-248, 1996. [PubMed: 8723717]
    72.5% of the euchromatic portion has been covered. 377 contigs have been constructed containing from 2 to 39 contigs. STSs are being used to anchor cosmids and contigs onto the YAC framework.
    Aberration: Marker chromosome
    No band
  • Teebi A S, Krishna Murthy D S, Sundareshan T S, Al-Awadi S A, Jeryan L A, Baidas G, Dahouk W S: Structural abnormalities of the Y chromosome associated with hypospadias, infertility, and short stature. Ann. Saudi Med. 9:414-416, 1989.
    mos45,X(51.5%)/46,XY(4%)/46,X,del(Yq)(4.2%)/46,X,t(Yp;Yq)(33.6%)/46,X,dic(Y)(3.6%)/46,X,r(Y)(2.5%)/47,X,t(Yp;Yq),+t(Yp;Yq)(0.2%)/ 47,X,del(Yq),+del(Yq)(0.2%)-470 cells of blood culture were examined.
    A 33-year-old man with infertility and some dysmorphic features was investigated.
    Aberration: TD,DI,RI
    Index Terms: Infertility
    No band
  • Teraoka M, Narahara K, Yokoyama Y, Tsuji K, Kikkawa K, Ito S, Koyama K, Seino Y.: 45,X/46,X,idic(Yq) mosaicism: clinical, cytogenetic, and molecular studies in four individuals. AJMG 78:424-428, 1998. [PubMed: 9714008]
    Patients 1 to 4:
    All four of them mos45,X/46,X,idic(Yq) in varying proportions in different tissues.
    Patients 1 & 2 had complete male phenotype and 3 & 4 were females with UTS phenotype.
    SRY, PABY, and ZFY genes were present in all four.
    Aberration: IC,DI
  • Tho S P T, Behzadian A, Byrd J R, McDonough P G: Correlation of the testicular determinant factor sequence zinc finger Y with varying gonadal phenotypes in a series of 13 subjects with gonadal dysgenesis due to Y aneuploidy. Am. J. Obstet. Gynecol. 163:1968-1975, 1990. [PubMed: 2256509]
    MIM#: 490000
    Index Terms: Zinc finger Y
  • Torroni A, Chen Y S, Semino O, Santachiara-Beneceretti A S, Scott C R, Lott M T, Winter M, Wallace D C: mtDNA and Y-chromosome polymorphisms in four native American populations from southern Mexico. AJHG 54:303-318, 1994. [PMC free article: PMC1918164] [PubMed: 8304347]
    Aberration: Marker chromosome
    Index Terms: MtDNA,Native American
    No band
  • Tyler-Smith C, Gimelli G, Giglio S, Floridia G, Pandya A, Terzoli G, Warburton P E, Earnshaw W C, Zuffardi O.: Transmission of a fully functional human neocentromere through three generations. AJHG 64:1440-1444, 1999. [PMC free article: PMC1377882] [PubMed: 10205277]
    Tyler-Smith C, Oakey R J, Larin Z, Fisher R B, Crocker M, Affara N A, Ferguson-Smith M A, Muenke M, Zuffardi O, Jobling M A: Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes. Nature Genet. 5:368-375, 1993. [PubMed: 8298645]
    32 cell lines with various Y chromosome make-up were studied.
    In the 1999 paper, the authors described an unusual Y chromosome, ascertained prenatally, with a primary constriction inside the long-arm heterochromatin.
    Aberration: Marker chromosome
    Index Terms: Centromere,Neocentromere
    No band
  • Vague J, Mattei A, Stahl A, Luciani J M, Devictor-Vuillet M, Carlon N, Rubin P: Essential testicle hypotrophy, confluent sebaceous adenomatosis of the face, caryotype 46,XY/46,XYpi/47,XYpiYpi. Ann. Endocrinol. 31:1183-1192, 1970. [PubMed: 5509949]
    Two out of 198 cells had 47 chromosomes.
    Aberration: Isochromosome
    Index Terms: Adenomatosis,Testes ... dysgenetic
    No band
  • van den Berghe H: Personal communication, 1974.
    A Y/Y translocation in a newborn male with craniosynostosis.
    Aberration: Simple translocation
    Index Terms: Craniosynostosis
    No band
  • Velagaleti G V N, Tharapel S A, Martens P R, Tharapel A T.: Rapid identification of marker chromosomes using primed in situ labeling (PRINS). AJMG 71:130-133, 1997. [PubMed: 9217209]
    Case 1:AB.
    46,X,r(?).ish r(Y)(DYZ3+)
    Mother had an elevated MSAFP. Ultrasound indicated no anomalies with male genitalia.
    Aberration: Ring chromosome
    Index Terms: PRINS
    No band
  • Verma R S, Dosik H: Human chromosome heteromorphisms in American blacks. VII. Correlation (r) between height and the size of the Y chromosome. Jpn. J. Hum. Genet. 27:43-46, 1982. [PubMed: 7109314]
    Verma R S, Dosik H, Scharf T, Lubs H A: Length heteromorphisms of fluorescent (f) and non-fluorescent (nf) segments of human Y chromosome: classification, frequencies, and incidence in normal caucasians. J. Med. Genet. 15:277-281, 1978. [PMC free article: PMC1013697] [PubMed: 712759]
    Verma R S, Evans-McCalla M, Dosik H: Human chromosomal heteromorphisms in American blacks. VI. Higher incidence of longer Y owing to non-fluorescent (nf) segment. J. Med. Genet. 19:297-301, 1982. [PMC free article: PMC1048898] [PubMed: 6889654]
    Verma R S, Huq A, Dosik H: Racial variation of a non-fluorescent segment of the Y chromosome in East Indians. J. Med. Genet. 20:102-106, 1983. [PMC free article: PMC1049009] [PubMed: 6842543]
    Verma R S, Rodriguez J, Shah J V, Dosik H.: Peripheral location of the Y chromosome: relationship to race and length heteromorphism. Heredity 52:227-234, 1984. [PubMed: 6735737]
    Verma R S, Shah J V, Dosik H.: Size of Y chromosome not associated with abortion risk. Obstet. Gynecol. 61:633-634, 1983. [PubMed: 6835618]
    Aberration: Marker chromosome
    No band
  • Verp M S, Rzeszotarski M S, Martin A O, Simpson J L: Relationship between Y-chromosome length and first-trimester spontaneous abortions. Am. J. Obst. Gynecol. 145:433-438, 1983. [PubMed: 6824036]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Videbech P, Nielsen J, Wohlert M, Eriksen G, Hansen K B, Hvidman L, Krag-Olsen B: The impact of large Y chromosome on pregnancy, foetus and birth. Clin. Genet. 26:281-288, 1984. [PubMed: 6499243]
    No band
  • Viguie F, Romani F, Dadoune J P: "Male infertility in a case of (Y;6) balanced reciprocal translocation. Mitotic and meiotic study." Hum. Genet. 62:225-227, 1982. [PubMed: 7169213]
    46,X,t(Y;6)(Yp6p;Yq6q).
    Aberration: Whole-arm translocations
    Index Terms: Sterility ... male
    No band
  • Vogt P H, Affara N, Davey P, Hammer M, Jobling M A, Lau Y F C, Mitchell M, Schempp W, Tyler-Smith C, Williams G, Yen P, Rappold G A.: Report of the third international workshop on Y chromosome mapping 1997. Cytogenet. Cell Genet. 79:1-20, 1997. [PubMed: 9533010]
    Index Terms: Y map
  • Wachtel S S: Errors of sex determination. Hum. Genet. 58:1-127, 1981. [PubMed: 6116663]
    This special number consists of several papers on H(Y) antigen, XX males, and other related topics.
    No band
  • Wahlstrom J, Kyllerman M, Hansson A, Taranger J: Unequal mitotic sister chromatid exchange and different length of Y chromosomes. Hum. Genet. 70:186-188, 1985. [PubMed: 3859466]
    Aberration: Marker chromosome
    No band
  • Wall W J, Butler L J: Classification of Y chromosome polymorphisms by DNA content and C-banding. Chromosoma 97:296-300, 1989. [PubMed: 2707100]
    Aberration: Marker chromosome
    No band
  • Westlake J R, Robertson R, Leddet I, Funderburk S J, Sparkes R S: Y chromosome length related to fetal loss. Clin. Genet. 24:413-419, 1983. [PubMed: 6686093]
    No band
  • Whitfield L S, Sulston J E, Goodfellow P N.: Sequence variation of the human Y chromosome. Nature 378:379-380, 1995. [PubMed: 7477372]
    Aberration: Marker chromosome
    No band
  • Willis M J H, Bird L M, Dell''Aquilla M, Jones M C.: Natural history of prenatally diagnosed 46,X,isodicentric Y. Prenat. Diag. 26:134-137, 2006. [PubMed: 16463293]
    Case 1=45,X[14]/46,X,psu dic(Y)(q12)[5],SRY++).,Case 2=45,X[3]/46,X,idic(Y)(p11)[11].,Case 3=45,X[16]/46,X,+mar[4].ish i(Y)(q11.2)(SRY++).,Case 4=45,X[33]/46,X,i(Y)(q11.22)[1].,Case 5=45,X[2]/46,X,idic(Yp)[14].
    Pregnancy terminated in case 4. Others were normal male.
    Aberration: IC,DI
    Chromosomal Aneuploidy: Yq+;Yp+
  • Wilson D M, Hintz R L, Ross J C, Rosenfeld R G: Sex chromosome fragment in a phenotypically normal female. Clin. Ped. 25:36-39, 1986. [PubMed: 3455908]
    Patient was 15 years old; had gonadectomy and tissue was dysgenetic revealing an admixture of ovarian and testicular origin.
    mos45,X/46,X,+mar(Y?).
    No band
  • Wisniewski L P, Hirschhorn K: Distamycin A-DAPI banding of nonfluorescent Y(Ynf) chromosomes in 45,X/46,XYnf mosaicism. Hum. Genet. 60:130-132, 1982. [PubMed: 6951799]
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106191
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