0Yq100

0Yq10

Publication Details

  • Benezech M, Noel B, Mouget A: Length of Y chromosome, intelligence and behavior in a mental penal population. Hum. Genet. 41:211-216, 1978. [PubMed: 640655]
    It was found that no statistical correlation exists to support the theory of a relation between a long Y chromosome and the type of psychiatric (psychopathy, psychosis) or criminality diagnosis.
    Index Terms: Criminality,Psychiatric problems
    No band

  • Borgaonkar D S, McKusick V A, Herr H M, De los Cobos L F, Yoder O C: Constancy of the length of human Y chromosome. Ann. Genet. 12:262-264, 1969. [PubMed: 5309419]
    46,X,Yq+ and 46,X,Yq-.
    Family studies showing variations in the length of the Y chromosome without any effect on height and fertility have been reported.
    Aberration: Marker chromosome
    MIM#: 475000
    No band

  • Cantrell M A, Bogan J S, Simpson E, Bicknell J N, Goulmy E, Chandler P, Pagon R A, Walker D C, Thuline H C, Graham J M, Jr, de la Chapelle A, Page D C, Disteche C M: Deletion mapping of H-Y antigen to the long arm of the human Y chromosome. Genomics 13:1255-1260, 1992. [PubMed: 1505957]
    Eight (previously published) patients with various abnormalities of the Y chromosome were studied.
    The H-Y antigen gene maps to interval 6 position on Yq.
    Index Terms: H-Y antigen gene
    No band

  • Caspersson T, Hulten M A, Jonasson J, Lindsten J, Therkelsen A J, Zech L: Translocations causing non-fluorescent Y chromosomes in human XO/XY mosaics. Hereditas 68:317-324, 1971. [PubMed: 4142012]
    Case No. 4 in this report.
    45,X/46,X,t(Y;2)(q1;p).&"A patient with a nonfluorescent Y chromosome is hypothesized -> have a t(2p+;Yq-) translocation on the basis of results obtained with meiotic material."
    Aberration: Simple translocation
    No band

  • Coll M D, Clusellas N, Grao P, Geau E, Egozcue J: Satellite polymorphism or Y/autosome translocation? Clin. Genet. 43:271-272, 1993. [PubMed: 8375110]
    Case 1:
    46,XY,14p+t(Y;14)(q1;p1)QFQ.
    Case 2:
    46,XY,22p+QFQ.
    Aberration: SA,ST
    No band

  • Cram D S, Ma K, Bhasin S, Ariasc J, Pandjaitanc M, Chu B, Audrins P, Saunders D, Quinn F, deKrester D, McLachlan R.: Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of de novo deletions. Fert. Steril. 74:909-915, 2000. [PubMed: 11056231]
    Vertical transmission of Yq deletions was shown in a study of 86 men who had fathered 99 sons.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: Yq-
    No band

  • Davalos I P, Rivera H, Vasquez A I, Gutierrez-Angulo M, Hernandez-Vazquez M C, Cortina-Luna F A, Wong-Ley L E, Dominguez-Quezada M G.: A 45,X sterile male with Yp disguised as 21p. AJMG 111:202-204, 2002. [PubMed: 12210351]
    45,X.ish der(Y;21)(p10;q10)(wcpY+,DYZ3+,D13Z1/D21Z1+).
    The patient was 31 years old with a 6-year history of primary tserility.
    Aberration: ST,MA
    Chromosomal Aneuploidy: Yp+

  • Delobel B, Djlelati R, Gabriel-Robez O, Croquette M F, Rousseaux-Prevost R, Rousseaux J, Rigot J M, Rumpler Y.: Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies. Hum. Genet. 102:98-102, 1998. [PubMed: 9490306]
    Aberration: Reciprocal translocation
    Index Terms: Oligozooteratozoospermia

  • Ellis P M, West J D, West K M, Murray R S, Coyle M C: Relevance to prenatal diagnosis of the identification of a human Y/autosome translocation by Y-chromosome-specific in situ hybridization. Mole. Reprod. Develop. 25:37-41, 1990. [PubMed: 2393582]
    46,XY,t(Y;14)(14qter -> 14p1::Yq1 -> Yqter).
    A precautionery note has been sounded with regard to the potential use of interphase nuclei analysis by DNA probes.
    No band

  • Friedrich U, Nielsen J: Presumptive Y-15 and Y-22 translocations in two families. Hereditas 71:339-342, 1972. [PubMed: 4680666]
    Case report A.
    46,XX,-15,+t(Y;15)(q1;p1).&"46,XX,-15,+t(Y;15)(15qter -> 15p1::Yq1 -> Yqter)."&"46,XY,-15,+der(15)t(Y;15)(q1;p1)mat."
    Case report B.
    46,XX,-22,+t(Y;22)(q1;p1).&"46,XX,-22,+t(Y;22)(22qter -> 22p1::Yq1 -> Yqter)."&"46,XY,-22,+der(22)t(Y;22)(q1;p1)mat."
    Proband No. 173 in this report.
    46,XY,-15,+der(15)t(Y;15)(q1;p1)mat.
    Proband No. 27 in this report.
    46,XX,-22,+der(22)t(Y;22)(q1;p1)mat.
    Aberration: Simple translocation
    No band

  • Frund S, Koske-Westphal T, Fuchs-Mecke S, Passarge E: Quinacrine mustard fluorescence of a second Y chromosome in a Y-autosomal translocation. Humangenetik 14:133-136, 1972. [PubMed: 4112732]
    Translocation of the fluorescent segment of the Y to the short arm of 15 has been hypothesized: 46,XY,t(Y;15)(q1;p1).
    Aberration: Simple translocation
    No band

  • Genest P: A human satellited Y chromosome with a probably illegitimate paternal origin. Canad. Med. Assoc. J. 107:1205-1206, 1972. [PMC free article: PMC1941071] [PubMed: 4638423]
    Genest P, Bouchard M, Bouchard J: A satellited human Y chromosome: an evidence of autosome gonosome translocation. A preliminary note. Canad. J. Genet. Cytol. 9:589-595, 1967. [PubMed: 4229792]
    46,X,Yqs.&46,X,der(Yqs)pat.&47,X,der(Yqs)pat,+21.
    Aberration: Satellited chromosome
    No band

  • Genest P: Hereditary transmission since 300 years of a satellited Y chromosome in a family. Ann. Genet. 16:35-38, 1973. [PubMed: 4541807]
    Genest P: Further study on the nature of a multicentury small Y chromosome. Ann. Genet. 24:165-166, 1981. [PubMed: 6974527]
    Genest P, Laberge C, Poty J, Gagne R, Bouchard M: "Transmission d''un petit ""Y"" durant onze generations dans une lignee familiale." Ann. Genet. 13:233-238, 1970. [PubMed: 5313887]
    Genest P, Lejeune J: On the origin of a small Y chromosome several hundred years old. Ann. Genet. 15:51-53, 1972. [PubMed: 4537615]
    A small Y chromosome was found in male descendants of a common ancestor who emigrated from France -> Canada in 1661.&This deleted Y(q12) was found in French and French Canadian descendants, thus claimed as the oldest known chromosomal variation.
    Aberration: SA,MA
    No band

  • Gilgenkrantz S, Pierson M, Mauuary G: 13q+ chromosome due to a probable translocation of a supernumerary Y. Ann. Genet. 16:167-172, 1973. [PubMed: 4543205]
    46,XY,t(Y;13)(13pter->13q::Yq1->Yqter).
    Aberration: Simple translocation
    No band

  • Girardi S K, Mielnik A, Schlegel P N.: Submicroscopic deletions in the Y chromosome of infertile men. Hum. Reprod. 12:1635-1641, 1997. [PubMed: 9308784]
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: Yq-

  • Hopps C V, Mielnik A, Goldstein M, Palermo G D, Rosenwaks Z, Schlegel P N.: Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum. Reprod. 18:1660-1665, 2003. [PubMed: 12871878]
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: Yq-
    Index Terms: AZFa, AZFb, AZFc

  • Hoshi N, Tonoki H, Handa Y, Fujino T, Okuyama K, Koga Y, Matsumoto Y, Yamada T, Yamada H, Kishida T, Sagawa T, Fujieda K, Nakahori Y, Kant J A, Fujimoto S.: Prenatal identification of mos45,X/46,X,+mar in a normal male baby by cytogenetic and molecular analysis. Prenat. Diag. 18:1316-1322, 1998. [PubMed: 9885026]
    mos45,X/46,X,del inv(Y)(pter->Yq10::Yq11.23->Yq10),,del(Y)(q12).ish der(Y)(DYZ3+,DYZ1+).,Father=46,XYqh+.
    The pregnancy was continued because of several reasons. The child is developing normally (at 5 years).
    Aberration: IP,TD
    Chromosomal Aneuploidy: Yq-

  • Jaruzelska J, Korcz A, Wojda A, Jedrzejczak P, Surmacz T, Pawelczyk L, Page D C, Kotecki M.: Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion. J. Med. Genet. 38:798-802, 2001. [PMC free article: PMC1734763] [PubMed: 11732492]
    Lange J, Skaletsky H, van Daalen S K M, Embry S L, Korver C M, Brown L G, Oates R D, Silber S, Repping S, Page D C.: Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. Cell 138: 855-869, 2009. [PMC free article: PMC3616640] [PubMed: 19737515]
    65 Polish men with azoospermia (lack of sperm cells in semen), 23 men with severe oligospermia, and six with oligospermia were studied.
    47,XXY in 10 men.,AZF deletions in several men.,45,X cell line in some patients.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: Yq-
    Index Terms: Palindromes

  • Kaluzewski B, Jokinen A, Hortling H, de la Chapelle A: A theory explaining the abnormality in 45,X/46,XY mosaicism with non-flourescent Y chromosome. Presentation of three cases. Ann. Genet. 21:5-11, 1978. [PubMed: 308343]
    Three patients with male habitus, short stature and testicular differentiation are described. Y chromosome was abnormal, lacking a brilliant QFQ flourescence and dark CGB staining characteristic of the distal part of the normal Y. Two of the patients were tested for H-Y antigen and found to be positive.
    No band

  • Komori S, Nakata Y, Sakata K, Kato H, Koyoma K.: Analysis for microdeletions of Y chromosome in a single spermatozoon from a man with severe oligozoospermia. J. Hum. Genet. 46:76-79, 2001. [PubMed: 11281416]
    Work supports ''the conjecture that microdeletions are transmitted to the next generation via the treatment of infertility by intracytoplasmic sperm injection''.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: Yq-
    Index Terms: Oligozoospermia severe
    No band

  • Kotecki M, Jaruzelska J, Skowronska M, Fichna P: Deletion mapping of interval 6 of the human Y chromosome. Hum. Genet. 87:234-236, 1991. [PubMed: 2066115]
    Four patients Cases 1(MO), 2(BS), 3(RW), and 4(MW).
    Case 1-mos45,X(70%)/46,X,del(Y)(q11.2)(30%).&Case 2-mos45,X(52%)/46,X,Ynf(48%).&Case 3-mos45,X(88%)/46,X,Ynf(12%).&Case 4-mos45,X(15%)/46,X,Ynf(85%).
    Female or ambiguous genitalia with other anomalies were found in these patients.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Yq-
    No band

  • Kyaosaar M E, Mikelsaar A V N: Chromosome investigation in married couples with repeated abortions. Humangenetik 17:277-283, 1973. [PubMed: 4694509]
    Case Nos. 7 and 16 in this report.
    46,X,Yq+.
    Aberration: Marker chromosome
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band

  • Lau Y F, Schonberg S: A male-specific DNA probe detects heterochromatin sequences in a familial Yq- chromosome. AJHG 366:1394-1396, 1984. [PMC free article: PMC1684645] [PubMed: 6517059]
    No band

  • Lau Y F, Ying K L, Donnell G N: Identification of a case of Y:18 translocation using a Y-specific repetitive DNA probe. Hum. Genet. 69:102-105, 1985. [PubMed: 2982722]
    Patient was 5 years old with dysmorphic features; and parental karyotypes were normal.
    46,XY,de novo t(Y;18)(q1;p1).
    Aberration: Simple translocation
    No band

  • Leisti J: Structural variation in human mitotic chromosomes. Ann. Acad. Sci. fenn. (Med.) Series A, IV, Biologica 179:1-69, 1971. [PubMed: 4261167]
    Case No. 20 in this report.
    47,X,t(Yq;?6q),+21.
    Aberration: Simple translocation
    No band

  • Limon J, Gibas Z, Kaluzewski B, Moruzgala T: Demonstration of two different regions of lateral asymmetry in human Y chromosomes. Hum. Genet. 51:247-252, 1979. [PubMed: 92451]
    Aberration: Marker chromosome
    No band

  • Liow S L, Ghadessy F J, Ng S C, Yong E L.: Y chromosome microdeletions, in azoospermic or near-azoospermic subjects, are located in the AZFc (DAZ) subregion. Mol. Hum. Reprod. 4:763-768, 1998. [PubMed: 9733433]
    Aberration: Interstitial deletion
    MIM#: 415000
    Chromosomal Aneuploidy: Yq-

  • Macintyre M N, Rustad R C, Turk K B: Prenatal evaluation in a case of familial Y chromosome long arm deletion (Yq-). J. Med. Genet. 11:367-370, 1974. [PMC free article: PMC1013206] [PubMed: 4443985]
    The marker Yq- chromosome was compared in the father and then normal fetal development was predicted.
    Aberration: Marker chromosome
    No band

  • Martin Lucas M A, Perez Castillo A, Abrisqueta J A.: Origin and structure of a satellited Y chromosome. Ann. Genet. 27:184-186, 1984. [PubMed: 6334485]
    Parents L.L.S., father and wife M.P.L. were studied because of an anencephalic child.
    46,X,der(Yqs) which is interpreted as t(Yq1;15p1).
    A three generation family with 6 male individuals is reported.
    Aberration: ST,SA
    Index Terms: Satellited ... Y
    No band

  • McKenzie W H, Hostetter T L, Lubs H A: Y family study: Heritable variation in the length of the human Y chromosome. AJHG 24:686-693, 1971. [PMC free article: PMC1762299] [PubMed: 5082919]
    Aberration: Marker chromosome
    No band

  • Miller R C, Goodman R M, Miller F R, Nusbaum L: A new variant of Klinefelter''s syndrome with a presumptive deleted Y chromosome. Ann. Int. Med. 67:825-831, 1967. [PubMed: 6052857]
    46,XX,del(Y)(q1).&46,XX,del(Y)(pter -> q1:).
    Aberration: Terminal deletion
    Index Terms: Klinefelter syndrome
    No band

  • Nielsen J: Large Y chromosome (Yq+) and increased risk of abortion. Clin. Genet. 13:415-416, 1978. [PubMed: 566178]
    In 11,148 consecutively newborn children, 58 boys with a large Y chromosome were found. Mothers of these boys had 22% abortions, compared with 13% among 4,895 mothers of children with normal karyotype and without Yq+.
    Aberration: Marker chromosome
    No band

  • Page D C, Silber S, Brown L G.: Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility. Hum. Reprod. 14:1722-1726, 1999. [PubMed: 10402375]
    Aberration: Interstitial deletion
    MIM#: 415000

  • Reitalu J: A familial Y-22 translocation in man. Hereditas 74:155-160, 1973. [PubMed: 4758983]
    46,XX,-22,+t(Y;22)(q1;p1).&"46,XX,-22,+t(Y;22)(22qter -> 22p1::Yq1 -> Yqter)."&"46,XY,-22,+der(22)t(Y;22)(q1;p1)mat."
    Aberration: Simple translocation
    No band

  • Ruzicska P, Czeizel A: Cytogenetic studies on mid-trimester abortuses. Humangenetik 10:273-297, 1970. [PubMed: 5493232]
    Abortus No. 70-67 in this report.
    46,X,Yq+,16q+.
    Aberration: Marker chromosome
    No band

  • Schnedl W, Abraham R, Dann O, Geber G, Schweizer D: Preferential fluorescent staining of heterochromatic regions in human chromosomes 9, 15 and Y by D287/170. Hum. Genet. 59:10-13, 1981. [PubMed: 10819015]
    No band

  • Seki N, Sumiya H, Shimazaki J, Toyama Y, Takahashi E I, Murata M, Hori T A: Chromosome abnormalities and rare fragile sites detected in azoospermia patients. Jpn. J. Hum. Genet. 37:215-222, 1992. [PubMed: 1472703]
    Patients 1, 22, and 30.
    46,X,del(Yq).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Yq-
    Index Terms: Azoospermia
    No band

  • Soudek D, Langmuir V, Stewart O J: Variation in the nonfluorescent segment of long Y chromosome. Humangenetik 18:285-290, 1973. [PubMed: 4732020]
    Aberration: Marker chromosome
    No band

  • Sperling K, Lackman I: Large human Y chromosome with two fluorescent bands. Clin. Genet. 2:352-355, 1971. [PubMed: 5155312]
    46,X,dup(Y)(q1).
    Aberration: Marker chromosome
    No band

  • Taillemite J L, van den Akker J, Portnoi M F, Le Porrier N, Roux C: Mosaique 45,X/46,XY avec Y petit et non fluorescent. Ann. Genet. 21:116-119, 1978.
    A bilateral gonadoblastoma was observed on histologic examination of adnexectomy tissues.
    Index Terms: Gonadoblastoma
    No band

  • Thangaraj K, Subramanian S, Reddy A G, Singh L.: Unique case of deletion and duplication in the long arm of the Y chromosome in an individual with ambiguous genitalia. AJMG DOI=10.1002/ajmg.a.10865; 116A:205-207, 2003. [PubMed: 12494445]
    46,XY,dup(Yq11)del(Yq12)de novo.
    The 5 year old proband was studied because of undescended testis and ambiguous genitalia.
    Aberration: TD,DU
    Chromosomal Aneuploidy: Yq-;Yq+

  • Tsenghi C, Metaxotou-Stavridaki C, Strataki-Benetou M, Kalpini-Mavrou A, Matsaniotis N: Chromosome studies in couples with repeated spontaneous abortions. Obst. Gynecol. 47:463-468, 1976. [PubMed: 943737]
    Couple 53 in this report.
    46,XY,t(Yq-;9p+),9qh+.&A bright fluorescent band on the short arm of a chromosome 9 is thought to be a translocated segment of Y chromosome and the same chromosome 9 has elongated heterochromatic segment.
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band

  • Velissariou V, Antoniadi T, Patsalis P, Christopoulou S, Hatzipouliou A, Donoghue J, Bakou K, Kaminopetros P, Athanassiou V, Petersen M B.: Prenatal diagnosis of two rare de novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis. Prenat. Diag. 21:484-487, 2001. [PubMed: 11438955]
    Case 1=46,XYqs.,Case 2=46,X,del(Y)(q11).
    The satellites were derived from chromosome 15.,The deleted portion in case 2, included AZFb and AZFc.
    Aberration: SA,TD
    Chromosomal Aneuploidy: Yq-

  • 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]
    Aberration: Marker chromosome
    No band

  • Vignetti P, Chessa L, Bruni L, Ferrante E, Dallapiccola B: Translocation Y/5 resulting in cri du chat syndrome. Clin. Genet. 12:319-322, 1977. [PubMed: 589854]
    Case C. C., 000072, in this report.
    45,X,del(5)(p14)/45,X,t(Y;5)(q11;p14).&"45,X,del(5)(p14)/45,X,t(Y;5)(5qter -> 5p14::Yq11 -> Ypter)."
    It is not clear from the data presented as to what the correct karyotype is.
    Aberration: Simple translocation
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    No band

  • Wall W J, Clark M S, Coates P: Structural complexity of Y chromosome heterochromatin. Cytobios 56:17-22, 1988. [PubMed: 3251678]
    Aberration: Marker chromosome
    No band

  • Wilkinson T A, Crolla J A: Molecular cytogenetic characterization of three familial cases of satellited Y chromosomes. Hum. Genet. 91:389-391, 1993. [PubMed: 8500794]
    Cases A, B, and C.
    46,X,t(Yq;15p)
    Families were ascertained for various reasons such as amniocentesis, Soto''s syndrome, low set ears, growth retardation, and a posterior cleft palate.
    Use of D15Z1 probe showed that the satellited Y was a product of Y;15 translocation.
    Aberration: SA,ST
    Index Terms: Sotos syndrome
    No band

  • Winters A J, Benirschke K, Whalley P, MacDonald P C: Mosaicism and lack of fluorescence of Y chromosome. Obst. Gynecol. 46:367-370, 1975. [PubMed: 1172221]
    45,X/46,XY and possibly 47,XYY.
    No band

  • Yunis E, Garcia-Conti F L, Torres de Caballero O M, Giraldo A: Yq deletion, aspermia, and short stature. Hum. Genet. 39:117-122, 1977. [PubMed: 924439]
    A 36-year-old phenotypic normal male.
    Aberration: Terminal deletion
    Index Terms: Aspermia,Stature ... short (low)
    No band