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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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0Yp110

0Yp11
  • Al-Awadi S A, Naguib K K, Farag T I, Teebi A S, Cuschieri A, Al-Othman S A, Sundareshan T S: Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23 to q25. J. Med. Genet. 23:91-92, 1986. [PMC free article: PMC1049553] [PubMed: 3950944]
    Naguib K K, Al-Awadi S A, Farag T I, Mohammed F M: Penile enlargement in 3q23-q25 deletion syndrome. AJMG 36:361, 1990. [PubMed: 2363439]
    Patient was 2 1/2 years old with multiple anomalies.
    46,X,t(Y;1;3)(Yqter -> Yp11::1q21 -> 1qter;1pter -> 1q12::3q25 -> 3qter;3pter -> 3q23:).
    Aberration: Complex translocation
    Index Terms: Penile enlargement
    No band
  • Andersson M, Page D C, Brown L G, Elfving K, de la Chapelle A: "Characterization of a (Y;4) translocation by DNA hybridization." Hum. Genet. 78:377-381, 1988. [PubMed: 3360449]
    46,X,t(Y;4)(p11;q32).
    Patient was 32 years old and studied because of childlessness after 4 years of marriage.
    Aberration: Reciprocal translocation
    No band
  • Arnemann J, Schnittger S, Hinkel G K, Tolkendorf E, Schmidtke J, Hansmann I: "A sterile male with 45,XO and a Y;22 translocation." Hum. Genet. 87:134-138, 1991. [PubMed: 2066100]
    45,X,t(Y;22)de novo.
    Patient was 20 years old with sterility. Initially read as 22p+ with no fluorescing satellites or NOR activity. DNA probe studies showed Yp derived material on the short arm of that chromosomes 22.
    Aberration: Simple translocation
    Index Terms: Sterility ... male
    No band
  • Ataya K M, Dudin G, Mroueh A: Dicentric i(Yq) chromosome and azoospermia. AJMG 14:583-590, 1983. [PubMed: 6859108]
    46,X,i(Yq).
    Aberration: Dicentric chromosome
    Index Terms: Azoospermia
    No band
  • Baheux-Morlier G, Emerit I, Roux C: Trisomie 21 et anomalie de structure de L''Y. Ann. Genet. 13:191-194, 1970. [PubMed: 5313147]
    46,X,inv(Y)(pq).&47,X,inv(Y)(pq),+21.
    Aberration: Inversion pericentric
    No band
  • Blagowidow N, Page D C, Huff D, Mennuti M T: Ullrich-Turner syndrome in an XY female fetus with deletion of the sex-determining portion of the Y chromosome. AJMG 34:159-162, 1989. [PubMed: 2816992]
    46,X,del(Y)(p11)intervals 1 & 2.
    Fetus had cystic hygroma; autopsy demonstrated gonadal dysgenesis, generalized lymphedema, and preductal aortic coarctation.
    Y-DNA hybridization demonstrated a deletion of the sex-determining segment.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Yp-
    Index Terms: Turner syndrome
    No band
  • Bochkov N P, Kuleshov N P, Chebotarev A N, Alekhin V I, Midian S A: Population cytogenetic investigation of newborns in Moscow. Humangenetik 22:139-152, 1974. [PubMed: 4858449]
    46,X,inv(Y)(p+q-)pat.
    Aberration: Inversion pericentric
    No band
  • Borgaonkar D S: Application of new technics of chromosome identification to cytogenetic problems. BD-OAS IX(No. 1):171-182, 1973. [PubMed: 4120145]
    A case of pericentric Y inversion is described.,46,XY,inv(Y)(p11q1).,46,XY,inv(Y)(pter -> p11::q1 ->p11::q1 -> qter).
    Aberration: Inversion pericentric
    No band
  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    inv(Y)(p11q11); inv(Y)(p11q12); inv(Y)(pterq12).
    Aberration: Inversion pericentric
    No band
  • Boutouil M, Fetni R, Qu J, Dallaire L, Richer C L, Lemieux N.: Fragile site and interstitial telomere repeat sequences at the fusion point of a de novo (Y;13) translocation. Hum. Genet. 98:323-327, 1996. [PubMed: 8707303]
    Lemieux N, Boutouile M, Fetni R, Qu J, Dallaire L, Richer C L.: Interstitial telomeric sequences and fragile sites: a dilemma. Hum. Genet. 101:252-253, 1997.
    Rivera H.: Fragile site or dissociation of a t(Y;13). Hum. Genet. 101:251, 1997. [PubMed: 9402981]
    45,X,t(Y;13)(Yqter->Yp11::13p1::13qter)de novo.
    The proband was 13 years old and had a moderate psychomotor retardation, mild facial asymmetry, dental malocclusion, short fifth fingers and toes. External genitalia were normal.
    The Y chromosome appeared to be intact.
    Aberration: ST,FS
    Index Terms: Telomer ... repeat sequences
    No band
  • Buchanan P D, Wyandt H E, D''Ercole J, Rao K W, Hartsell M L: A mitotically unstable human dicentric Y chromosome in a male pseudohermaphrodite. Cytogenet. Cell Genet. 17:42-50, 1976. [PubMed: 949907]
    45,X/46,X,dic(Y)(p11)/46,X,del(dic Y).,Four years later additional cell lines were found.
    Aberration: Dicentric chromosome
    Index Terms: Pseudohermaphroditism
    No band
  • Buhler E M, Frey R O, Muller H, Voegdin M, Stalder G R: Fluorescence pattern of a dicentric Y. Humangenetik 12:170-172, 1971. [PubMed: 4105534]
    46,XY,dic(Y).
    Aberration: Dicentric chromosome
    No band
  • Buhler E M, Tsuchimoto T, Buhler U K, Stalder G R: A rare structural anomaly of the Y chromosome: Y ring. Arch. Genetik 47:52-59, 1974. [PubMed: 4469774]
    mos45,X/46,X,r(Y).,This case was earlier published by Zdansky et al, Humangenetik 7:275-286, 1969.
    Aberration: Ring chromosome
    No band
  • Butler M G, Sanger W G, Walzak M P: A unique Y/Y translocation in an infertile male. Cytogenet. Cell Genet. 31:175-177, 1981. [PMC free article: PMC6706851] [PubMed: 7326995]
    46,X,t(Y;Y)(qter -> p11::q11 -> qter).
    Aberration: Simple translocation
    Index Terms: Sterility ... male
    No band
  • Cassorla F G, Emanuel B S, Parks J S, Wu C H, Wheeler J E, Tenore A: "Cytogenetic and endocrine findings in a female with 45,X,t(Y;18)(p11;p11)." Clin. Genet. 19:312-320, 1981. [PubMed: 7197597]
    Patient was 23 years old.
    Aberration: Simple translocation
    No band
  • Chandley A C, Edmond P: Meiotic studies on a subfertile patient with a ring Y chromosome. Cytogenetics 10:295-304, 1971. [PubMed: 5127018]
    Chandley A C, Edmond P, Christie S, Gowans L, Fletcher J M, Frackiewicz A, Newton M S: Cytogenetics and infertility in man. I. Karyotype and seminal analysis. Results of a five-year survey of men attending a subfertility clinic. Ann. Hum. Genet. 39:231-254, 1975. [PubMed: 1052767]
    Purportedly first report of a ring Y chromosome in man. The X and the ring Y remained unpaired at diakinesis and maturation arrest between the first and second meiotic divisions was observed.
    Case J.W. (A187/70) in this report.
    45,X/46,X,r(Y).
    Aberration: Ring chromosome
    Index Terms: Sterility ... male
    No band
  • Cockwell A E, Jacobs P A, Beal S J, Crolla J A.: A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities. Hum. Genet. 112:298-302, 2003. [PubMed: 12596054]
    Patient 50B=46,XY.ish del(Y)(CY29-,beta-satellite-,,DYZ3+,c8.1/2+)der(21)t(Y;21)(CY29+,beta-satellite-,LI.26+,C9a1+).
    This couple had 4 miscarriages.
    Aberration: Reciprocal translocation
  • Cohen M M, MacGillivray M H, Capraro V J, Aceto T A: Human dicentric Y chromosomes: case report and review of the literature. J. Med. Genet. 10:74-79, 1973. [PMC free article: PMC1012978] [PubMed: 4697856]
    45,X/46,X,dic(Yq).
    Aberration: Dicentric chromosome
    No band
  • Cooper C, Crolla J A, Laister C, Johnston D I, Cooke P: An investigation of ring and dicentric chromosomes found in three Turner''s syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes. J. Med. Genet. 28:6-9, 1991. [PMC free article: PMC1016740] [PubMed: 1999837]
    Case 2.
    mos45,X(5)/46,X,dic?(Y)(15).
    X and Y chromosome probes (pSV2X5 and Y190, Y75/79, and Y84) were used to identify the small ring chromosomes.
    Aberration: Dicentric chromosome
    No band
  • Czeizel A, Csosz L, Gardonyi J, Remenar L, Ruzicska P: Chromosome studies in twelve patients with retinoblastoma. Humangenetik 22:159-166, 1974. [PubMed: 4843909]
    46,X,inv(Y)(pq).
    Aberration: Inversion pericentric
    Index Terms: Retinoblastoma
    No band
  • Dallapiccola B, Chessa L, Vignetti P, Ferrante E, Gandini E: "Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p:t(Y;10)(p11;p12)." Hum. Genet. 50:45-49, 1979. [PubMed: 468260]
    46,X,t(Y;10)(p11;p12)de novo.,46,X,t(Y;10)(Yqter->Yp11::10p12->10pter)de novo.
    The infant had MCA/MR.
    Aberration: Simple translocation
    MIM#: 142600
    Chromosomal Aneuploidy: 10p+
    No band
  • Daniel A, Lyons N, Casey J H, Gras L: Two dicentric Y isochromosomes, one without the Yqh heterochromatic segment. Hum. Genet. 54:31-39, 1980. [PubMed: 7190126]
    Case 1, 17 years old with primary amenorrhea.
    mos 45,X,/46,X,dic(Y)(pter -> cen -> q11::q11 -> cen -> pter).
    Case 2, 38 years old with primary amenorrhea, goitre and right bundle-branch block.
    45,X/46,X,dic(Y)(qter -> cen -> p11::p11 -> cen -> qter).
    Aberration: Dicentric chromosome
    No band
  • de Almeida J C C, Barcinski M A, doceu Abreu M, Naya J, Kayath H C, Cunha A G, Schulz I, Mello R S, Santos R R: 45,X/46,XY,r(Y) in a case of asymmetrical testicular differentiation. Ann. Genet. 17:37-40, 1974. [PubMed: 4546344]
    mos45,X/46,X,r(Y).,Since the patient presented with asymmetrical testicular differentiation, the possibility that the male determining factors must be located on either arms of the Y chromosome near the centromere is discussed.
    Aberration: Ring chromosome
    No band
  • de Chieri P R, Hirschhorn K: Dicentric Y-chromosome mosaicism in a girl with clitoral hypertrophy. Hum. Genet. 52:149-152, 1979. [PubMed: 575104]
    The patient was 12 years old.,mos45,X/46,X,dic(Y)(qter->p11::p11->qter)/,46,XX/47,XX,+dic(Y)(qter->p11::p11->qter).
    Aberration: Dicentric chromosome
    Index Terms: Clitoris ... large
    No band
  • Disteche C M, Casanova M, Saal H, Friedman C, Sybert V P, Graham J, Thuline H C, Page D C, Fellous M: Small deletions of the short arm of the Y chromosome in 46,XY females. PNAS 83:7841-7844, 1986. [PMC free article: PMC386818] [PubMed: 3464001]
    Tsuchiya K, Reijo R, Page D C, Disteche C M.: Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. AJHG 57:1400-1407, 1995. [PMC free article: PMC1801429] [PubMed: 8533770]
    Patients 1 and 2 had some features of Turner syndrome.
    46,X,del(Y)(p11).
    MIM#: 424500
    Index Terms: Turner syndrome,Gonadoblastoma
    No band
  • Fass B, Kaplan S, Lippe B M, Sparkes R S: Inconsistent expression of both centromeres of a dicentric Y chromosome in a child with ambiguous external genitalia. J. Med. Genet. 15:232-236, 1978. [PMC free article: PMC1013685] [PubMed: 671491]
    Case MB(15776) in this report.
    mos 45,X/46,X,dic(Y).
    Aberration: Dicentric chromosome
    Index Terms: Genitalia ... ambiguous
    No band
  • Frey R O, Buhler E M, Buhler U K, Stalder G R: 45,X/46XYqdic sex chromosome mosaic. Humangenetik 27:81-90, 1975. [PubMed: 1150238]
    mos45,X/46,X,dic(Y)(qter->p11::p11->qter)
    Aberration: Dicentric chromosome
    No band
  • Friedrich U, Nielsen J: Pericentric inversion Y in a population of newborn boys. Hereditas 76:147-152, 1974. [PubMed: 4136008]
    Proband Nos. 7890 and 9748 in this report.
    46,X,inv(Y)(pter->p11::q11->p11::q11->qter)
    Aberration: Inversion pericentric
    No band
  • German J, Simpson J L, McLemore G A: Abnormalities of human sex chromosomes. I. A ring Y without mosaicism. Ann. Genet. 16:225-231, 1973. [PubMed: 4544085]
    46,X,r(Y)(pq).
    Aberration: Ring chromosome
    No band
  • Giraud F, Mattei J F, Lucas C, Mattei M G: Four new cases of dicentric Y chromosomes. Hum. Genet. 36:249-260, 1977. [PubMed: 852871]
    Case 4(14 year old girl) in this report.
    45,X/46,X,dicY(q12).&45,X/46,X,dicY(pter -> q12::q12 -> pter).
    Cases 1(12 y.o. girl), 2(18 y.o. girl) and 3(28 y.o. male) in this report.
    45,X/46,X,dicY(p11).&45,X/46,X,dicY(qter -> p11::p11 -> qter) some other minor cell lines were also found.
    Aberration: Dicentric chromosome
    No band
  • Gisselsson D, Kristoffersson U, Giwercman A.: Ring Y chromosome in an azoospermic male with short stature: additional evidence for a distinct ring Y syndrome in non-mosaic patients? Clin. Genet. 64:519-521;DOI=10.1046/j.1399-0004.2003.00173.x, 2003. [PubMed: 14986833]
    46,X,r(Y).ish (wcpY+,SRY+,AZFa+).
    The 32 year old patient presented with short stature and a 2 year history of infertility.
    Aberration: Ring chromosome
    Index Terms: Yp-,Yq-
  • Govaerts L C P, Draaisma J M Th, Blij-Philipsen M v d, Smeets D F C M.: A phenotypical male infant with 46,X,der(Y)t(X;Y)(?;p11)de novo. Ann. Genet. 40:41-44, 1997. [PubMed: 9150849]
    46,X,der(Y)t(X;Y)(?;p11)de novo
    The newborn was dysmorphic with proptosis, blepharophimosis and a prominent upper lip with retrognatia. The infant died after 18 weeks.
    Aberration: Simple translocation
    No band
  • Grace H J, Ally F E, Paruk M A: 46,X,inv(Yp+q-) in four generations of an Indian family. J. Med. Genet. 9:293-297, 1972. [PMC free article: PMC1469142] [PubMed: 5079101]
    46,X,inv(Y)(pq).,46,X,der(Y)inv(Y)(pq)pat.
    Aberration: Inversion pericentric
    No band
  • Haeusler G, Guchev Z, Kohler I, Schober E, Haas O, Frisch H: Constitutional chromosome anomalies in patients with cerebral gigantism (Sotos syndrome). Klin. Padiatr. 205:351-353, 1993. [PubMed: 8411901]
    Case 1:
    46,X,inv(Y)(p1q1).
    Patient was 15.7 years old with the appearance of Sotos syndrome, dolicocephalic, head circumference 65 cm; >97 %ile, and gait was clumsy.
    Aberration: Inversion pericentric
    MIM#: 117550
    Index Terms: Sotos syndrome,Dolichocephaly
    No band
  • Hayek A, Yunis E: Dicentric Y chromosome in mixed gonadal dysgenesis. J. Med. Genet. 12:210-212, 1975. [PMC free article: PMC1013268] [PubMed: 49429]
    45,X/46,X,dic(Yq).
    Aberration: Dicentric chromosome
    Index Terms: Gonadal dysgenesis
    No band
  • Herva R, Saarinen I, Sairkurki H, de la Chapelle A: Dicentric Y chromosome arising via tandem translation. AJMG 7:115-122, 1980. [PubMed: 7193412]
    Patient was 20 years old.
    mos 45,X(30%)/46,XY(60%)/46,X,tan dic(Y)(Yp11 -> Yq12::Yp11 -> Yq12)(10%).
    Aberration: Dicentric chromosome
    No band
  • Jacobs P A, Price W H, Richmond S, Ratcliff R A W: Chromosome surveys in penal institutions and approved schools. J. Med. Genet. 8:49-58, 1971. [PMC free article: PMC1468972] [PubMed: 5098071]
    Cases 211-68 and 245-68 in this report.
    46,X,inv(Y)(pq).
    Aberration: Inversion pericentric
    No band
  • Joyce C A, Dennis N R, Cooper S, Browne C E.: Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH. Hum. Genet. DOI=10.1007/s004390100588;109:440-451, 2001. [PubMed: 11702226]
    46,XY.ish 17qter(B37c1x2),der(Y)t(Y;17)(pter;q25.3)(B37c1+,CY29+).
    Normal relative in a family.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 17q+
  • Khodr G S, Benirschke K: Y ring chromosome associated with gonadoblastoma in situ. Obst. Gynecol. 41:897-901, 1973. [PubMed: 4708485]
    Case C.D. in this report.
    mos45,X/46,X,r(Y).,Gonadectomy was performed on this 12-year-old girl.
    Aberration: Ring chromosome
    Index Terms: Gonadoblastoma
    No band
  • Klinger H P, Glasser M, Kava H W: Contraceptives and the conceptus. I. Chromosome abnormalities of the fetus and neonate related to maternal contraceptive history. Obst. Gynecol. 48:40-48, 1976. [PubMed: 934573]
    45,X/46,XYp-.
    Aberration: Terminal deletion
    No band
  • Kosztolanyi G: Giemsa-11 technique elucidating three structurally altered nonfluorescent Y chromosomes: r(Y), idic(Yp), dir tan dup(Yp). Ann. Genet. 31:235-240, 1988. [PubMed: 3265307]
    Case 1:mos45,X/46,X,r(Y).,Case 2:mos45,X/46,X,idic(Yp)?,Case 3:mos45,X/46,X,dir tan dup(Yp).
    Varying phenotypes were present, features of Turner syndrome, small stature with incomplete masculinization, and ambiguous genitalia respectively.
    Aberration: RI,DI,DU
    No band
  • Krishna Murthy D S, Murthy S K, Patel J K, Banker G N, Shah V C: Inherited pericentric inversion of Y-chromosome with trisomy 21. A case report. Ann. Genet. 32:47-51, 1989. [PubMed: 2526612]
    47,X,inv(Y)pat,+21.
    The features of Down syndrome present were: mongoloid facies, short neck, microcephaly, epicanthic folds, small ears, depressed nasal bridge, high arched palate, thick furrowed tongue, abnormal teeth, and short stubby hands.
    Aberration: Inversion pericentric
    No band
  • Kulikov R I, Mashkova M V, Verlinskaya D K, Bondarev G N: Identification of some human chromosome aberration by the fluorescent method with quinacrine mustard. Cytologia (USSR) 18:213-218, 1976.
    Two patients, a 15 y.o. boy and a 2 y.o. girl, with a dicentric Y chromosome are reported. Both had abnormalities of the external genitalia. The girl, in addition, had a balanced translocation t(1;14)(q31;q3).,45,X,t(1;14)(q31;q31)/46,X,dic(Y),t(1;14)(q31;q31).,Karyotypes of the parents of the girl were normal.
    Aberration: Dicentric chromosome
    Index Terms: Genitalia ... anomalies
    No band
  • Lai H C, Wang S, Lai J S, Wuu K D: A chromosomal survey of mentally retarded children in Taipei. IV. An azoospermic male with unstable ring Y chromosome. J. Formosan Med. Assoc. 80:1327-1331, 1981. [PubMed: 6951928]
    Patient was 22 years old.
    Index Terms: Azoospermia
    No band
  • Laszlo J, Gaal M, Bosze P: Nonmosaic 46,X,r(Y) karyotype with female phenotype. Hum. Genet. 38:351-356, 1977. [PubMed: 914284]
    Case A. Sch. in this report (23 yrs. old).
    Father had a normal 46,XY karyotype with Y fluorescence.
    Aberration: Ring chromosome
    No band
  • Lauritsen J G, Jonasson J, Therkelsen A J, Lass F, Lindsten J, Petersen G B: Studies on spontaneous abortions. Fluorescence analysis of abnormal karyotypes. Hereditas 71:160-163, 1972. [PubMed: 4680642]
    48,inv(Y)(pq),+16,+18.
    Aberration: Inversion pericentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Lau Y-F C.: Gonadoblastoma, tseticular and prostate cancers, and the TSPY gene. AJHG 64:921-927, 1999. [PMC free article: PMC1377814] [PubMed: 10090875]
    A good discussion of the role TSPY gene plays in gonadoblastoma.
    Index Terms: TSPY gene,Gonadoblastoma
  • Lin C L, Gibson L, Pober B, Yang-Feng T L.: A de novo satellited short arm of the Y chromosome possibly resulting from an unstable translocation. Hum. Genet. 96:585-588, 1995. [PubMed: 8530007]
    The father was 30 years old and his wife had a stillborn fetus.
    46,XYps
    The father of the Yps carrier has a normal Y and so does his son from a second pregnancy of his wife.
    Stillborn fetus with MCA; however wife had a t(2;12)(p24.3;q24.1) balanced translocation.
    Aberration: Marker chromosome
    Index Terms: Satellited ... Yp
    No band
  • Maeda T, Ohno M, Ishihashi A, Samejima M, Sasaki K: Ring Y chromosome: 45,X/46,X,r(Y) chromosome mosaicism in a phenotypically normal male with azoospermia. Hum. Genet. 34:99-102, 1976. [PubMed: 965013]
    mos45,X/46,X,r(Y).,The 30-year-old patient was generally well developed with no malformations. External genitalia were normal with normal size testes.
    Aberration: Ring chromosome
    Index Terms: Azoospermia
    No band
  • Magenis R E, Tochen M L, Holahan K P, Carey T, Allen L, Brown M G: Turner syndrome resulting from partial deletion of Y chromosome short arm: localization of male determinants. J. Ped. 105:916-919, 1984. [PubMed: 6542134]
    46,XY,del(Y)(p11.2).
    Aberration: Terminal deletion
    Index Terms: Turner syndrome
    No band
  • Mendez H M M: Ring Y chromosome. AJMG 24:201-202, 1986. [PubMed: 3706407]
    Patient was 17 years old.
    46,X,r(Y).
    Aberration: Ring chromosome
    No band
  • Muller U, Fontaine D, Adinolfi M, Fraccaro M, Lalande M: Analysis of complex Y chromosome aberrations using a single DNA probe (Y-367). Cytogenet. Cell Genet. 50:161-164, 1989. [PubMed: 2550180]
    No band
  • Muller U, Kirkels V G H J, Scheres J M J: Absence of Turner stigmata in a 46,XYp- female. Hum. Genet. 90:239-242, 1992. [PubMed: 1487236]
    46,X,del(Y)(p11).
    A phenotypic female with structures resembling ovarian follicles at 23 years was investigated.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Yp-
    No band
  • Muller U, Lalande M: A physical map of the human Y-chromosome short arm. Genomics 7:517-523, 1990. [PubMed: 1974877]
    Muller U, Lalande M, Donlon T A, Heartlein M W: Breakage of the human Y-chromosome short arm between two blocks of tandemly repeated DNA sequences. Genomics 5:153-156, 1989. [PubMed: 2548948]
    No band
  • Nielsen J, Rasmussen J: Pericentric Y-inversion. J. Genet. Hum. 22:21-29, 1974. [PubMed: 4430896]
    46,X,inv(Y)(p+q-).,The inverted Y was found in males of a large kindred.
    Aberration: Inversion pericentric
    No band
  • Ono T, Sakai N, Hayashi Y, Saito M, Kawagoe S N, Hiroi M: 45,X/46,X,dic(Yq) mosaicism in Turner''s phenotype with endodermal sinus tumor of the ovary. Gynecol. Obstet. Invest. 27:45-47, 1989. [PubMed: 2920974]
    mos45,X/46,X,dic(Yq).
    Patient was 15 years old.
    Aberration: Dicentric chromosome
    Index Terms: Endodermal sinus tumor
    No band
  • Patil S R, Lubs H A, Brown J A, Cohen M M, Gerald P S, Hecht F, Kimberling W J, Myrianthopoulos N, Summitt R L: Incidence of major chromosome abnormalities in children. Cytogenetics 18:302-306, 1977. [PubMed: 880833]
    Case 17 in this report.
    46,X,inv(Y)(p11q11).,46,X,inv(Y)(pter->p11::q11->p11::q11->qter).
    Parents have not been studied.
    Aberration: Inversion pericentric
    No band
  • Petrovic V, Nasioulas S, Chow C W, Voullaire L, Schmidt M, Dahl H: Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies. J. Med. Genet. 29:542-546, 1992. [PMC free article: PMC1016058] [PubMed: 1518023]
    Patient was a 12 year old girl with short stature.
    46,X,del(Y)(p11q11).
    Gonadectomy was performed and histology confirmed dysgerminoma arising from a gonadoblastoma in the left gonad. This case shows that even very small Y can predispose the phenotypic female to gonadal neoplasia.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Yp-
    Index Terms: Gonadoblastoma
    No band
  • Pohlschmidt M, Rappold G, Krause M, Ahlert D, Hosenfeld D, Weissenbach J, Gal A: Ring Y chromosome: molecular characterization by DNA probes. Cytogenet. Cell Genet. 56:65-68, 1991. [PubMed: 2013232]
    46,X,r(Y)(p11q11).
    Patient was 18 years old.
    An extremely small chromosome]
    Aberration: Ring chromosome
    No band
  • Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
    46,XY,inv(Y)(p11q11).
    Aberration: Inversion pericentric
    No band
  • Repping S, van Daalen S K M, Korver C M, Brown L G, Marszalek J D, Gianotten J, Oates R D, Silber S, van der Veen F, Page D C, Rozen S.: A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8 Mb deletion in the azoopsermia factor c region. Genomics 83:1046-1052, 2004. [PubMed: 15177557]
    The 1.8-Mb, b2/b3, deletion removes half of the AZFc region is widely distributed in Eurasia.
    Aberration: Interstitial deletion
    MIM#: 415000
    Chromosomal Aneuploidy: Yp-
    Index Terms: AZFc,b1/b3 deletion,b2/b3 deletion
  • Rivera H, Gutierrez-Angulo M, Gomez-Sanchez H, Macias-Gomez N, Barros-Nunez P.: True vs false inv(Y)(p11q11.2): a familial instance concurrent with trisomy 21. Ann. Genet. DOI=10.1016/S0003-3995(02)01112-7; 45:63-65, 2002. [PubMed: 12119213]
    Rivera H, Moller M, Baltazar L M, Escalante-Herrera A, Garcia-Cruz D: A further 46,XYp- female. Ann. Genet. 36:244-246, 1988. [PubMed: 3265309]
    46,X,del(Y)(p11).
    Patient was 24 years old female with Swyer syndrome.
    47,X,der inv(Y)(p11q11.2)pat+21.
    The proband was 7 years old with Down syndrome.
    Aberration: TD,PI,MA
    MIM#: 306100
  • Rosenfeld R G, Luzzatti L, Hintz R L, Miller O J, Koo G C, Wachtel S S: Sexual and somatic determinants of the human Y chromosome: Studies in a 46,XYp- phenotypic female. AJHG 31:458-468, 1979. [PMC free article: PMC1685895] [PubMed: 573550]
    A 26 year old patient had multiple stigmata of Turner syndrome, but normal stature, was H-Y antigen negative.
    Aberration: Terminal deletion
    Index Terms: Turner syndrome
    No band
  • Sarto G E, Opitz J M, Inhorn S L: Considerations of sex chromosome abnormalities in man. In Comparative Mammalian Cytogenetics, Benirschke, K, Ed Springer-Verlag, New York :390-413, 1969.
    Case 1, D.Z. (011250) in this report.
    46,XX/47,XX,+r(Y).
    Aberration: Ring chromosome
    No band
  • Schinzel A A, Adelsberger P A, Binkert F, Basaran S, Antonarakis S E: No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomittant familial chromosome rearrangements. AJHG 50:288-293, 1992. [PMC free article: PMC1682467] [PubMed: 1531165]
    Patient 6.
    46,X,inv(Y)(p11q12).
    Aberration: Inversion pericentric
    Index Terms: Interchromosomal effect
    No band
  • Schroer R J, Phelan M C, Hamilton T: Ring Y chromosome associated with short stature and infertility. Proc. Greenwood Genet. Ctr. 4:33-35, 1985.
    Patient J. L.
    mos45,X/46,X,r(Y).
    Aberration: Ring chromosome
    Index Terms: Stature ... short (low),Sterility ... male
    No band
  • Seifer D B, Meyers-Seifer C H, Lavy G, Genel M, Decherney A H, Yang-Feng T L: Laparoscopic adnexectomy in a prepubertal Turner mosaic female with isodicentric Y. Hum. Reprod. 6:566-567, 1991. [PubMed: 1918308]
    mos45,X(30%)/46,X,i dic(Yq)(70%).
    Patient was 11 2/12 years old.
    Aberration: DI,IC
    Index Terms: Adnexectomy,Laparoscopic,Prepubertal
    No band
  • Sloan M S, Rosenberg S M, Brown J A: Primary amenorrhea and virilization in a true hermaphrodite with a rare dicentric Y chromosome. Obst. Gynecol. 64:64s-67s, 1984. [PubMed: 6540849]
    mos45,X/46,X,dic(Y)(p11).
    Aberration: Dicentric chromosome
    Index Terms: Hermaphrodism ... true
    No band
  • Sofuni T, Tanabe K, Naruto J, Awa A A: A new type of inversion of a human Y chromosome. Humangenetik 30:91-97, 1975. [PubMed: 53182]
    Case MF (337924) in this report.
    46,X,ins(Y)(p11q11q12).,46,X,ins(Y)(pter->p11::q11->q12::cen::q12->qter).
    Aberration: Inverted insertions within a chromosome
    No band
  • Sparkes R S, Muller H M, Veomett I C: Inherited pericentric inversion of a human Y chromosome in trisomic Down''s syndrome. J. Med. Genet. 7:59-62, 1970. [PMC free article: PMC1468929] [PubMed: 4249307]
    46,X,inv(Y)(pq).,46,X,der(Y)inv(Y)(pq)pat.,47,X,der(Y)inv(Y)(pq)pat,+21.
    Aberration: Inversion pericentric
    Index Terms: Down syndrome (Trisomy 21)
    No band
  • Steinbach P, Fabry H, Scholz W: Unstable ring Y chromosome in an aspermic male. Hum. Genet. 47:227-231, 1979. [PubMed: 457111]
    A 31-year-old with normally developed external genitalia, growth retardation had a ring Y chromosome.
    Aberration: Ring chromosome
    Index Terms: Aspermia
    No band
  • Stolecke H, Pfeiffer R A, Hienz H A, Strohmenger P, Bier L: Diagnosis and therapy in a child with intersexual genitals and chromosomal mosaic (45,X/46,XYiq,dic). Z. Kinderchirurgie 18:90-96, 1976.
    Case C.F.(Archiv-Nr. 1401/72) in this report.
    mos45,X/46,Xidic(Yq).,mos45,X/46,XY,idic(1Yqter->1Yp11::2Yp11->Yqter).,The child exhibited asymmetric gonadal development and external intersexuality.
    Aberration: IC,DI
    Index Terms: Genitalia ... anomalies
    No band
  • Tsukahara M, Matsuura S, Kishi F, Fisher L K, Stock A D, Izumikawa Y, Naritomi K, Kajii T: Y-derived sequence detected in minute chromosomes by polymerase chain reaction and in situ hybridization. Clin. Genet. 42:80-83, 1992. [PubMed: 1424235]
    Patient 1 (89112) and Patient 2 (89124).
    mos45,X/46,X,r(Y).
    Both patients, girls, had ambiguous genitalia.
    In situ hybridization with probe pY-80 suggests that the small chromosome consists Yp material including testis-determining factor genes.
    Aberration: Ring chromosome
    No band
  • Tzancheva M, Kaneva R, Kumanov P, Williams G, Tyler-Smith C.: Two male patients with ring Y: definition of an interval in Yq contributing to Turner syndrome. J. Med. Genet. 36:549-553, 1999. [PMC free article: PMC1734411] [PubMed: 10424817]
    Patient TS=mos46,X,r(Y)[92]/46,X,r(Y)double size[3]/45,X[5].,Patient DM=46,X,r(Y)[48]/46,X,r(Y)double size[2].
    TS was 19 years old and presents almost all of the Turner syndrome stigmata.,DM was 13 years old with short stature.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: Yp-;Yq-
    Index Terms: Turner syndrome
  • van den Berghe H, Fryns J P, David G: An autosome-Y translocation restudied. Humangenetik 20:375-376, 1973. [PubMed: 4768114]
    van den Berghe H, Steeno O, Verresen H, de Moor P: Hypogonadism associated with chromosomal break in autosome No. 2 and translocation presumably on the Y chromosome. J. Clin. End. Met. 25:1246-1250, 1965. [PubMed: 5830943]
    46,X,t(Y;2)(p11;p1).
    Aberration: Simple translocation
    Index Terms: Hypogonadism
  • Wagenbichler P, Golob E: Detection of sex-chromosome anomalies in newborn infants. Wien. Klin. Wochenschr. 87:126-130, 1975. [PubMed: 1130080]
    3184 male and 2900 female infants were screened for Y- and X-chromatin.
    Case 1692/II in this report.
    46,XYr.
    Aberration: Ring chromosome
    No band
  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    46,X,t(Y;4)(p11;p16).
    Aberration: Reciprocal translocation
    No band
  • Wegner R D, Scherer G, Pohlschmidt M, L''Allemand D, Gal A: Ring Y chromosome: cytogenetic and molecular characterization. Clin. Genet. 42:71-75, 1992. [PubMed: 1424234]
    mos45,X/46,X,r(Y)/46,XY.
    The 9 year old girl had Turner syndrome characteristics.
    Molecular work showed that the ring was missing substantial segments of both the p and q arms of the Y chromosome.
    Aberration: Ring chromosome
    No band
  • Wilson M G, Stein R B, Towner J W: Ring Y chromosome without mosaicism. BD-OAS XII(No. 5):105-112, 1976. [PubMed: 953209]
    46,X,r(Y).
    Aberration: Ring chromosome
    No band
  • Yanagisawa S: Structural abnormalities of the Y chromosome and abnormal external genitals. Hum. Genet. 53:183-188, 1980. [PubMed: 7188927]
    Case 1 in this report. Parents have normal karyotypes.
    mos 45,X/46,X,del(Y)/47,X,del(Y),del(Y).
    Case 2 in this report. Parents have normal karyotypes.
    mos 45,X/46,X,del(Y).
    Case 3 in this report. Parents have normal karyotypes.
    mos 45,X/46,X,r(Y).
    Aberration: Ring chromosome
    Index Terms: Genitalia ... anomalies
    No band
  • Yen P H, Marsh B, Allen E, Tsai S P, Ellison J, Connolly L, Neiswanger K, Shapiro L J: The Human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell 55:1123-1135, 1988. [PubMed: 3203382]
    Aberration: Inversion pericentric
    No band
  • Ying K L, Ives E J: Mitotic behavior of human dicentric Y chromosomes. Cytogenetics 10:208-218, 1971. [PubMed: 5156695]
    45,X/46,X,dic(Y)(p11).
    Aberration: Dicentric chromosome
    No band
  • Zeuthen E, Nielsen J: Pericentric Y inversion in the general population. Humangenetik 19:265-270, 1973. [PubMed: 4763930]
    There are no indications that pericentric Y inversion is associated with phenotypic deviation.
    Aberration: Inversion pericentric
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106324
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