U.S. flag

An official website of the United States government

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

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].

Show details

0Yq110

0Yq11
  • Same entry as in 0Xp22.3 (Kirchhoff et al, 2001).
  • Alvesalo L, de la Chapelle A: Tooth sizes in two males with deletions of the long arm of the Y-chromosome. Ann. Hum. Genet. 45:49-54, 1981. [PubMed: 7316477]
    Salo P, Ignatius J, Simola K O J, Tahvanainen E, Kaariainen H.: Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm. J. Med Genet. 32:711-715, 1995. [PMC free article: PMC1051672] [PubMed: 8544191]
    Salo P, Kaariainen H, Page D C, de la Chapelle A.: Deletion mapping of stature determinants on the long arm of the Y chromosome. Hum. Genet. 95:283-286, 1995. [PubMed: 7868119]
    The critical region for stature comprises the most proximal portion of the long arm, extending from marker sY78 in interval 4B to marker sY94 in interval 5G of the proximal long arm.
    Nine patients were studied.
    It is postulated that the growth-promoting gene(s) which affect statural growth are also in Yq11 segment.
    Congenital anomalies and dysmorphic features and azoospermia in older patients, were described.
    No band
  • Andersson M, Page D C, Pettay D, Subrt I, Turleau C, de Grouchy J, de la Chapelle A: "Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11." Hum. Genet. 79:2-7, 1988. [PubMed: 3163319]
    Turleau C, Chavin-Colin F, de Grouchy J: A 45,X male with translocation of euchromatic Y chromosome material. Hum. Genet. 53:299-302, 1980. [PubMed: 7372332]
    Propositus, 180847, was 32 years old.
    45,X,-Y,-14,+t(Y;14)(14qter->14p1::Yq11->?).
    Aberration: Simple translocation
    No band
  • Andersson M, Page D C, Pettay D, Subrt I, Turleau C, de Grouchy J, de la Chapelle A: "Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to Yq11." Hum. Genet. 79:2-7, 1988. [PubMed: 3163319]
    Subrt I, Blehova B: "Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11." Hum. Genet. 79:2-7, 1974,1988. [PubMed: 3163319]
    Case 1.
    45,X,-Y,-15,+t(Y;15)(Ypter->Yq11::15p11->15qter).
    Phenotypically normal male.
    Four generations of males, ie from great-grand-father to the young boy have 45,X chromosomes, no Y chromosome but 15p+ chromosome.
    Aberration: Robertsonian translocations
    No band
  • Bardoni B, Zuffardi O, Guioli S, Ballabio A, Simi P, Cavalli P, Grimoldi M G, Fraccaro M, Camerino G: A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics 11:443-451, 1991. [PubMed: 1769656]
    23 patients were studied.
    Index Terms: Spermatogenesis
    No band
  • Bengtsson B, Gustavson K H, Reuterskiold G, Santesson B, Ahnsen S: Male pseudohermaphroditism with a 45X/46,XYq-/mosaicism in a pair of monozygotic twins. Clin. Genet. 5:133-143, 1974. [PubMed: 4857285]
    45,X/46,X,del(Y)(q11).&45,X/46,X,del(Y)(pter -> q11:).
    Aberration: TD,MA
    Index Terms: Pseudohermaphroditism
    No band
  • Same entry as in 0Xp222,0Yp110 (Boue and Gallano, 1984).
  • Chandley A C, Ambros P, McBeath S, Hargreave T B, Kilanowski F, Spowart G: Short arm dicentric Y chromosome with associated statural defects in a sterile man. Hum. Genet. 73:350-353, 1986. [PubMed: 2427435]
    Patient WSM 184 was 24 years old. Father had a normal karyotype.
    45,X/46,XY/46,X,dic(Y)(q11)/46,X,del(Y)(q11).
    Aberration: Dicentric chromosome
    Index Terms: Sterility ... male
    No band
  • Cooke H J, Hargreave T, Elliott D J.: Understanding the genes involved in spermatogenesis: a progress report. Fert. Steril. 69:989-995, 1998. [PubMed: 9627280]
    Hargreave T B, Chandley A C, Ross A, Qureshi S, Kun M, Cooke H.: Y chromosome microdeletions and male subfertility. Andrologia 28(Suppl. 1):19-21, 1996. [PubMed: 9017092]
    Index Terms: AZF
    No band
  • de Almeida J C C, Llerena J C, Jr, Jung M, Martins R R, Gomes D M, Reis D F, Cunha A G: Combined cytogenetic techniques and non-fluorescent Y. Cytologic evidences of dic(Yp)(q11) in a previously interpreted 46,X,Yq-. Ann. Genet. 29:114-118, 1986. [PubMed: 3490206]
    Aberration: Dicentric chromosome
    No band
  • de Kretser D M, Burger H G.: The Y chromosome and spermatogenesis. NEJM 336:576-577, 1997. [PubMed: 9023097]
    Hucklenbroich K, Gromoll J, Heinrich M, Hohoff C, Nieschlag E, Simoni M.: Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis. Hum. Reprod. 20:191-197, 2005. [PubMed: 15498781]
    Pryor J L, Kent-First M, Muallem A, Van Bergen A H, Nolten W E, Meisner L, Roberts K P.: Microdeletions in the Y chromosome of infertile men. NEJM 336:534-539, 1997. [PubMed: 9023089]
    Simoni M, Gromoll J, Dworniczak B, Rolf C, Abshagen K, Kamischke A, Carani C, Meschede D, Behre H M, Horst J, Nieschlag E.: Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia. Fert. Ster. 67:542-547, 1997. [PubMed: 9091344]
    Simoni M, Kamischke A, Nieschlag E.: Current status of the molecular diagnosis of Y-chromosomal microdeletions in the work-up of male infertility. Initiative for international quality control. Hum. Reprod. 13:1764-1768, 1998. [PubMed: 9740417]
    Deletions involving the sY254 and sY255 were found. However, the size and position of deletions correlates poorly with the severity of spermatogenic failure.
    Aberration: Interstitial deletion
    MIM#: 415000
    Chromosomal Aneuploidy: Yq-
    Index Terms: AZF,azoospermia
  • Develing A J, Conte F A, Epstein C J: A Y-autosome translocation 46,X,t(Yq-:7q+) associated with multiple congenital anomalies. J. Ped. 82:495-498, 1973. [PubMed: 4349228]
    Case K.T. in this report.
    46,X,t(Y;7)(q11;q3).&The male infant had multiple congenital anomalies. Parents karyotypes were normal.
    Aberration: Simple translocation
    No band
  • Dutrillaux B, Gueguen J: Mitotic and meiotic analysis of an Y-autosome translocation. Humangenetik 27:241-245, 1975. [PubMed: 1150244]
    46,X,t(Y;5)(q11;p153).&"46,X,t(Y;5)(5qter -> 5p153::Yq11 -> Yqter;Ypter -> Yq11::5p153 -> 5pter)."
    Aberration: Reciprocal translocation
    No band
  • Faed M J W, Lamont M A, Baxby K: Cytogenetic and histological studies of testicular biopsies from subfertile men with chromosome anomaly. J. Med. Genet. 19:49-56, 1982. [PMC free article: PMC1048819] [PubMed: 7069747]
    Patient 489/79.
    46,X,t(Y;16)(q11;q13).
    Aberration: Simple translocation
    No band
  • Fernandes S, Paracchini S, Meyer L H, Floridia G, Tyler-Smith C, Vogt P H.: A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. AJHG DOI=0002-9297/2004/7401; 74:180-187, 2003 and 2004. [PMC free article: PMC1181906] [PubMed: 14639527]
    Kamp C, Hirschmann P, Voss H, Huellen K, Vogt P H.: Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum. Mol. Genet. 9:2563-2572, 2000. [PubMed: 11030762]
    Vogt P H, Edelmann A, Hirschmann P, Kohler M R.: The azoospermia factor (AZF) of the human Y chromosome in Yq11: function and analysis in spermatogenesis. Reprod. Fertil. Dev. 7: 685-693, 1995. [PubMed: 8711205]
    Vogt P H, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Kohn F M, Schill W B, Farah S, Ramos C, Hartmann M, Hartschuh W, Meschede D, Behre H M, Castel A, Nieschlag E, Weidner W, Grone H J, Jung A, Engel W, Haidl G.: Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet. 5:933-943, 1996. [PubMed: 8817327]
    12 out of 370 men with idiopathic azoopsermia had de novo deletions. Three loci AZFa, AZFb, and AZFc are designated.

    Vogt P H.: Human chromosome deletions in Yq11, AZF candidate genes and male infertility: history and update. Mol. Hum. Reprod. 4:739-744, 1998. [PubMed: 9733430]
    Fernandes et al conclude ''a common variant of the human Y chromosome lacks the DAZ3/DAZ4 and BPY2.2/BPY2.3 doublets in distal AZFc and thus that these genes cannot be equired for male fertility; the gene content of the AZFc locus is likely to be genetically reduntant.'' Thus, gene complement may differ substantially between individuals and more variations are to be expected in Y chromosome haplogroups.
    Aberration: Interstitial deletion
    MIM#: 415000
    Chromosomal Aneuploidy: Yq-
    Index Terms: Azoospermia,AZF
  • Fernandez R, Marchal J A, Sanchez A, Pasaro E.: A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X,psu dic(Y)(pter->q11::q11->pter). Hum. Genet. DOI=10.1007/s00439-002-0767-6; 111:242-246, 2002. [PubMed: 12215836]
    The Spanish patient was 24 years old with TS.
    45,X/46,X,+mar(?).ish psu dic(Y)(pter->q11::q11->pter).
    Aberration: Dicentric chromosome
    MIM#: 480000
    Index Terms: R59G,HMG-SRY
  • Fried K, Rosenblatt M, Varsano D: A boy with 46,X,del(Y) due to a de novo mutation. Hum. Hered. 25:472-476, 1975. [PubMed: 1225821]
    Case 270474 in this report.
    46,X,del(Y)(pter -> q11:),der(22ps+)pat.
    Father and two brothers of the proband had normal Y chromosomes. Blood group findings did not reveal any paternity exclusion.
    Aberration: Terminal deletion
    No band
  • Gimelli G, Cinti R, Varone P, Naselli A, Di Battista E, Pezzolo A.: The phenotype of a 45,X male with a Y/18 translocation. Clin. Genet. 49:37-41, 1996. [PubMed: 8721570]
    Patient G.S.
    45,X,-18,+der(18)t(Y;18)(q11;p11.2)
    The patient was evaluated at the age of 13 months for short stature and recurrent infections.
    Aberration: Simple translocation
    No band
  • Hahnemann N, Eiberg H: Antenatal genetic diagnosis in a kindred with a 15p+ chromosome. Clin. Genet. 4:464-473, 1973. [PubMed: 4132613]
    Hahnemann N, Miller R C, Greene A E, Coriell L L: "A (Y;15) translocation, 46 chromosomes. Repository identification No. GM-118." Cytogenet. Cell Genet. 15:408-409, 1975. [PubMed: 1225503]
    46,XX,-15,+der(Y)t(Y;15)(15qter->15p1::Yq11->Yqter)mat.,Proband''s mother and son are also carriers of this chromosome. A niece also carries this chromosome and has trisomy 21. Proband is a 29-year-old apparently normal female.
    Aberration: Simple translocation
    No band
  • Israel J, Lessick M, Szego K, Wong P: "Translocation 19;Y in a child with Bannayan-Zonana phenotype." J. Med. Genet. 28:427-428, 1991. [PMC free article: PMC1016916] [PubMed: 1870104]
    46,X,t(Y;19)(q11;q13).
    Patient was 11 years old with the features of BZS. Karyotypes of other family members were normal.
    Aberration: Reciprocal translocation
    MIM#: 153480
    No band
  • Jenderny J, Schmidt W, Held K R.: Presence of the AZF region in a female with an idic(Y)(q11). Clin. Genet. 54:341-344, 1998. [PubMed: 9831347]
    mos45,X/47,X,idic(Y)(q11),idic(Y)(q11)[0.7%]/46,X,idic(Y)[53%]
    The patient was 9 years old with features of Turner syndrome.
    Aberration: IC,DI
    MIM#: 415000
    Index Terms: AZF region
  • Johnson M D, Tho S P T, Behzadian A, McDonough P G: Molecular scanning of Yq11 (interval 6) in men with Sertoli-cell-only syndrome. Am. J. Obstet. Gynecol. 161:1732-1737, 1989. [PubMed: 2603934]
    Index Terms: Sertoli-cell
    No band
  • Khodr G S, Cadena G D, Ong T C, Siler-Khodr T M: Y-autosome translocation, gonadal dysgenesis, and gonadoblastoma. AJDC 133:277-282, 1979. [PubMed: 570803]
    A 5 year-old girl was karyotyped because of physical growth retardation.
    mos 45,X/45,X,t(Y;18)(q11;p11).&"mos 45,X/45,X,t(Y;18)(18qter -> 18p11::Yq11 -> Yqter)."
    Parents and a brother''s karyotypes were normal. Turner syndrome stigmata were absent in the patient.
    Aberration: Simple translocation
    Index Terms: Gonadal dysgenesis,Gonadoblastoma,Turner syndrome
    No band
  • Kirsch S, Weiss B, Kleiman S, Roberts K, Pryor J, Milunsky A, Ferlin A, Foresta C, Matthijs G, Rappold G A.: Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere. J. Med. Genet. 39:507-513, 2002. [PMC free article: PMC1735180] [PubMed: 12114485]
    Skare J, Drwinga H, Wyandt H E, vanderSpek J, Troxler R, Milunsky A: Interstitial deletion involving most of Yq. AJMG 36:394-397, 1990. [PubMed: 2389795]
    46,X,del(Y)(q11q12).
    Patient was 21 years old with azoospermia.
    DNA hybridization was helpful in assigning the breakpoints.
    Aberration: Interstitial deletion
    MIM#: 475000
    Chromosomal Aneuploidy: Yq-
    No band
  • Kohler M R, Vogt P H: Interstitial deletions of repetitive DNA blocks in dicentric human Y chromosomes. Chromosoma 103: 324-330, 1994. [PubMed: 7821087]
    Aberration: Dicentric chromosome
    No band
  • Kosztolanyi G, Trixler M: Yq deletion with short stature, abnormal male development, and schizoid character disorder. J. Med. Genet. 20:393-394, 1983. [PMC free article: PMC1049159] [PubMed: 6644771]
    46,X,del(Y)(q11).
    Aberration: Terminal deletion
    Index Terms: Psychosis ... schizophrenia-like,Stature ... short (low)
    No band
  • Kotzot D, Dufke A, Tzschach A, Baeckert-Sifeddine I-T, Geppert M, Holland H, Florus J M, Froster U G.: Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype. AJMG DOI=10.1002.ajmg.10612; 112:51-55, 2002. [PubMed: 12239720]
    mos46,X.del(Y)(q11)/45,X in various tissues.
    Aberration: Terminal deletion
    Index Terms: Gonadoblastoma
  • Laurent C, Dutrillaux B: "Translocation t(Y;14) in an azoospermic man." Ann. Genet. 19:207-209, 1976. [PubMed: 1086631]
    46,X,t(Y;14)(q11;p11).&"46,X,t(Yqter -> Yq11::14p11 -> 14qter; Ypter -> Yq11::14p11 -> 14pter)."
    Aberration: Reciprocal translocation
    Index Terms: Azoospermia,Sterility ... male
    No band
  • Liou J D, Ma Y Y, Gibson L H, Su H, Charest N, Lau Y F C, Yang-Feng T L.: Cytogenetic and molecular studies of a familial paracentric inversion of Y chromosome present in a patient with ambiguous genitalia. AJMG 70:134-137, 1997. [PubMed: 9128931]
    46,X,der inv(Y)(q11q12)pat.
    The infant was 2 years old. The inv(Y) was present in three generations. Gonadectomy was performed at 18 months.
    Aberration: Inversion paracentric
    Index Terms: Genitalia ambiguous
  • Mattei J F, Mattei M G, Coignet J, Giraud F: Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome. J. Med. Genet. 15:154-157, 1978. [PMC free article: PMC1013667] [PubMed: 641952]
    7 year old patient in this report with severe encephalopathy and multiple malformation syndrome. Parents had normal karyotypes with a minor variation of chromosome 13 in the father.
    46,XY,t(Y;5)(q11;p13)t(2;13)(q32;q13).
    Aberration: Simple translocation
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    No band
  • Mittermuller J, Dull T, Schmetzer H: Fehlinterpretation einer deletion des Y-chromosomes del(Y)(q11) mit infertilitat als Philadelphia-chromosom-positive chronische myeloische leukamie. Medizin. Klin. 89:279-282, 1994. [PubMed: 8052184]
    46,X,del(Y)(q11).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Yq-
    Index Terms: CML
    No band
  • Munke M, Page D C, Brown L G, Armson B A, Zackai E H, Mennuti M T, Emanuel B S: Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male. Hum. Genet. 80:219-223, 1988. [PubMed: 3192211]
    45,X,t(Y;18)(q11;q11).&"45,X,t(Y;18)(Ypter -> Yq11::18q11 -> 18qter)."
    Prenatal karyotype was interpreted as 45,X,abn.18? No signs of Turner syndrome were present; normal male genitalia were found.
    Y-specific probe used was pDP105.
    Aberration: Simple translocation
    MIM#: 236100
    Chromosomal Aneuploidy: 18-,Yq-
    Index Terms: Holoprosencephaly
    No band
  • Nanko S, Konishi T, Satoh S, Ikeda H: A case of schizophrenia with a dicentric Y chromosome. Jpn. J. Hum. Genet. 38:229-232, 1993. [PubMed: 8358047]
    46,X,dic(Y)(q11).
    Patient, born in 1945, was in an psychiatric ward.
    Aberration: Dicentric chromosome
    MIM#: 181510
    Index Terms: Schizophrenia
    No band
  • Narahara K, Yabuuchi H, Kimura S, Kimoto H: A case of a reciprocal translocation between the Y and No. 1 chromosomes. Jpn. J. Hum. Genet. 23:225-231, 1978. [PubMed: 732018]
    46,X,t(Y;1)(q11;q21).&"46,X,t(Y;1)(Y pter -> Yq11::1q21 -> 1qter;1pter -> 1q21::Yq11 -> Yqter)."&Both parents had normal karyotypes.&The 4 mo. old proband was karyotyped because of poor weight gain, psychomotor retardation and massive myoclonic spasms. Father was 26 yrs. old at birth of the proband.
    Aberration: Reciprocal translocation
    Index Terms: Spasma ... myodonic
    No band
  • Neu R L, O''Brien W F, Kousseff B G, Tedesco T A, Farmelo M J, Essig Y P, Miller K L, Nichols P M: Ultrasound identification of apparently normal male genitalia in a 46,X,+mar fetus. J. Med. Genet. 24:782-783, 1987. [PMC free article: PMC1050409] [PubMed: 3323519]
    The child was found to have normal male genitalia.
    46,X,del(Y)(q11).
    Aberration: Terminal deletion
    No band
  • Nielsen J, Friedrich U: A phenotypic male with karyotype 45,X/45,X,ace+(?Yq-). Humangenetik 15:319-329, 1972. [PubMed: 4634448]
    45,X/45,X,del(Y)(q11).&45,X/45,X,del(Y)(pter -> q11:).
    Aberration: Terminal deletion
    No band
  • Ostrer H, Henderson A L, Stringer L C: Characterization of Y chromosomal deoxyribonucleic acid fragments and translocations by Southern blot analysis. J. Ped. 111:678-683, 1987. [PubMed: 3312551]
    Several patients were studied with stigmata of Turner syndrome, gonadal dysgenesis.
    45,XX,t(Y;14)(q11;p11).&46,X,del(Y)fragment.
    No band
  • Pfeiffer R A, Bier L, Majewski F, Rager K: "De novo translocation t(Yq-;15p+) in a malformed boy." Humangenetik 19:349-352, 1973. [PubMed: 4763942]
    Patient No. WS (651004) in this report.
    46,X,t(Y;15)(q11;p1).
    Aberration: Simple translocation
    No band
  • Podruch P E, Yen F S, Dinno N D, Weisskopf B: Yq- in a child with livedo reticularis, snub nose, microcephaly, and profound mental retardation. J. Med. Genet. 19:377-380, 1982. [PMC free article: PMC1048926] [PubMed: 7143392]
    Parental karyotypes were normal, including a normal Y in the father.
    Aberration: Terminal deletion
    Index Terms: Microcephaly
    No band
  • Rary J M, Middleton A B, Mulivor R A, Greene A E, Coriell L L: "A (Y;17) translocation in a fibroblast culture from a female with 46 chromosomes. Repository identification No. GM-2598." Cytogenet. Cell Genet. 24:198, 1979. [PubMed: 573194]
    46,X,t(Y;17)(Ypter -> Yq11::17p13 -> 17pter;Yqter -> Yq11::17p13 -> 17qter).
    18 year old white female with amenorrhea found to have streak gonads and a gonadoblastoma.
    Aberration: Reciprocal translocation
    Index Terms: Gonadoblastoma,Gonads streak
    No band
  • Ratomponirina C, Couturier J, Gabriel-Robez O, Rumpler Y, Dutrillaux B, Croquette M F, Rabache Q, Leduc M: "Aberrations of the synaptonemal complexes in a male 46,XY,-14,+der(14)t(Y;14)." Ann. Genet. 28:214-218, 1985. [PubMed: 3879431]
    Patient was 34 years old.
    46,XY,-14,+der(14)t(Y;14)(q11;p11).
    Aberration: Simple translocation
    No band
  • Rivera H, Diaz-Castanos L: "Is Yq11 the main critical segment in balanced Y;autosome translocations?" Ann. Genet. 35:224-226, 1992. [PubMed: 1296519]
    No band
  • Rivera H, Dominguez M G, Vasquez A I, Ramos A L, Fragoso R: Centromeric association of a microchromosome in a Turner syndrome patient with a pseudodicentric Y. Hum. Genet. 92:522-524, 1993. [PubMed: 8244347]
    mos45,X(37.5%)/46,X,+mar(50.5%)/46,X,psu dic(Y)(q11)(7.5%)/47,X,psu dic(Y)(q11),psu dic(Y)(q11)(4.5%).
    Aberration: Dicentric chromosome
    No band
  • Roland B, Cox D M, Rudd N L: Sex chromosome mosaicism not detected at amniocentesis. Prenat. Diag. 10:333-336, 1990. [PubMed: 2143821]
    mos45,X/46,X,dic(Y)(q11).
    The patient was near normal male with no features of Turner syndrome.
    Aberration: Dicentric chromosome
    No band
  • Shinohara M, Minowada S, Aso Y, Yamada K, Nakahori Y, Tamura T, Nakagome Y: "A t(Y;15) translocation with a deletion of the proximal Yq in a boy with mixed gonadal dysgenesis." Hum. Genet. 86:442-444, 1991. [PubMed: 2016085]
    46,X,t(Y;15)(q11;p13).
    Father was 46,XYqh+ ie had a long Y chromosome.
    Aberration: Simple translocation
    No band
  • Smith A, Fraser I S, Elliott G: "An infertile male with balanced Y;19 translocation. Review of Y;autosome translocations." Ann. Genet. 22:189-194, 1979. [PubMed: 399165]
    Patient G.S., was 28 years old, who had azoospermia, was infertile and otherwise a clinically normal male.
    46,X,t(Y;19)(q11;p or q13).&"46,X,t(Y;19)(Ypter -> Yq11:?;Yq12 -> Yq11::p or q13 -> q or pter)."
    Aberration: Simple translocation
    Index Terms: Azoospermia,Sterility ... male
    No band
  • Stuppia L, Calabrese G, Franchi P G, Mingarelli R, Gatta V, Palka G, Dallapiccola B.: Widening of a Y-chromosome interval-6 deletion transmitted from a father to his infertile son accounts for an oligozoospermia critical region distal to the RBM1 and DAZ genes. AJHG 59:1393-1395, 1996. [PMC free article: PMC1914872] [PubMed: 8940286]
    Stuppia L, Gatta V, Calabrese G, Franchi P G, Morizio E, Bombieri C, Mingarelli R, Sforza V, Frajese G, Tenaglia R, Palka G.: A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11. Hum. Genet. 102:566-570, 1998. [PubMed: 9654206]
    Stuppia L, Mastroprimiano G, Calabrese G, Peila R, Tenaglia R, Palka G. : Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo- or azoospermia. Cytogenet. Cell Genet. 72: 155-158, 1996. [PubMed: 8978761]
    Amplification of the YRRM1 (RBM 1) gene and of 13 sequence tagged sites (STSs) was useful in locating these microdeletions.
    Patient R.A. was 32 years old and referred because of infertility and his 65 year old father and his wife had only one child because of Rh blood group complications.
    Proband: 46,X,del(Y)[sY243, sY269 (subinterval E), sY158, sY166, sY167 (subinterval F)].,Father: 46,X,del(Y)[sY158, sY166, sY167 (subinterval F)].
    Aberration: Interstitial deletion
    MIM#: 415000
    Chromosomal Aneuploidy: Yq-
    Index Terms: Azoospermia ... idiopathic oligo-
    No band
  • Stuppia L, Calabrese G, Franchi P G, Mingarelli R, Morizio E, Sabatino G, Palka G.: Molecular studies in three patients with isodicentric Y chromosome. Hum. Genet. 98:691-695, 1996. [PubMed: 8931702]
    Case 1, G.A.:
    mos45,-Y,dup(X)(p22.2)(83%)/46,X,idic(Y)(q11)-blood
    The patient was 40 years old with azoospermia.
    FISH showed similar results in blood nuclei and urinary tract cells.
    Case 2, C.L.:
    mos45,X(88)/46,X,idic(Y)(q11)(12 metaphases).
    The patient was 10 years old and evaluated for short stature and no gonadal tissue..
    FISH analyses on blood nuclei and urinary tract cells showed similar mosaicism.
    Case 3, P.M.:
    mos45,X(13%)/46,X,idic(Y)(q11)(87%)
    FISH with the SRY and Y-chromosome alpha satellite probes as well as GMG Y18 and 20/21 confirmed the karyotypic interpretation of the breakpoint being between azoospermia and deletion of interval 6 on Yq.
    Aberration: IC,DI
    MIM#: 480000
    Chromosomal Aneuploidy: Yp+
  • Sugarman ID, Crolla J A, Malone P S.: Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review. Clin. Genet. 46:313-315, 1994. [PubMed: 7834898]
    mos45,X(20 cells)/46,X,dic(Y)(pter->q11::q11->pter)(10 cells).
    The male patient with mixed gonadal dysgenesis, involving a streak gonad on the right and a histologically normal testis in the left was a newborn.
    Aberration: Dicentric chromosome
    Index Terms: Mixed gonadal dysgenesis
    No band
  • Teyssier M, Rafat A, Pugeat M: "Case of (Y;1) familial translocation." AJMG 46:339-340, 1993. [PubMed: 8488881]
    46,X,der t(Y;1)(q11;q11)pat.
    The proband, a 28 year old man, was examined for infertility. Father after an unspecified medical treatment had four children.
    Aberration: Whole-arm translocations
    No band
  • Tiepolo L, Zuffardi O: Localization of factors controlling spermatogenesis in the non fluorescent portion of the human Y chromosome long arm. Hum. Genet. 34:119-124, 1976. [PubMed: 1002136]
    Six cases are interpreted to have a deletion distal to band q11, i.e., 46,X,del(Y)(pter -> q11:). Suggestion has been made by the authors that on the distal portion of the non fluorescent segment of the long arm of the Y, factors are located controlling spermatogenesis.
    Aberration: Terminal deletion
    No band
  • Warburton D, Bluming A: """Philadelphia-like"" chromosome derived from the Y in a patient with refractory dysplastic anemia." Blood 42:799-804, 1973. [PubMed: 4746103]
    46,X,del(Y)(q11).&46,X,del(Y)(pter -> q11:).
    Aberration: TD,MA
    Index Terms: Anemia ... refractory dysplastic,Philadelphia chromosome (Ph1)
    No band
  • Yen P H.: A long-range restriction map of deletion interval 6 of the human Y chromosome: a region frequently deleted in azoospermic males. Genomics 54:5-12, 1998. [PubMed: 9806824]
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: Yq-
    Index Terms: Yq deletion interval 6,RBMY,DAZ
  • Yoshitsugu K, Meerabux J M A, Asai K, Yoshikawa T.: Fine mapping of an isodicentric Y chromosomal breakpoint from a schizophrenic patient. AJMG DOI=10.1002/ajmg.10794, 2002. [PubMed: 12497609]
    mos45,X[11]/46,X,idic(Y)(q11)[19].
    The breakpint is located between sY118 and sY119.
    Aberration: IC,DI
    Chromosomal Aneuploidy: Yq+
    Index Terms: Schizophren(ic)
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106922
Contents

Views

  • PubReader
  • Print View
  • Cite this Page

Related information

  • OMIM
    Related OMIM records
  • PMC
    PubMed Central citations
  • PubMed
    Links to PubMed

Recent Activity

ClearTurn OffTurn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...