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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-.

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

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0Yq120

0Yq12
  • Alitalo T, Tiihonen J, Hakola P, de la Chapelle A: "Molecular characterization of a Y;15 translocation segregating in a family." Hum. Genet. 79:29-35, 1988. [PubMed: 3366460]
    46,XX or XY,var(15)(p1,GTG53,CBG51,QFQ55).,46,XX or XY,der(15),t(Y;15)(15qter->15p11::Yq12->Yqter),mat or pat.
    Aberration: Simple translocation
    Variable band
  • Ashton-Prolla P, Gershin I F, Babu A, Neu R L, Zinberg R E, Willner J P, Desnick R J, Cotter P D. : Prenatal diagnosis of a familial interchromosomal insertion of Y chromosome heterochromatin. AJMG 73:470-473, 1997. [PubMed: 9415476]
    Father=46,XY,der(11)ins(11;Y)(q24;q12q12).ish der(11)(wcp11+,DYZ1+)mat.,Fetus=46,XX,der(11)ins(11;Y)pat.,Paternal grand-mother=46,XX,der(11)ins(11;Y).
    Pregnancy was continued and a normal girl was born.
    Aberration: Direct insertion between two chromosomes
  • Batstone P J, Faed M J W, Jung R T, Gosden J: 45,X/46,X,dic(Y) mosaicism in a phenotypic male. Arch. Dis. Child. 66:252-253, 1991. [PMC free article: PMC1792831] [PubMed: 2001114]
    mos45,X/46,X,dic(Y)(pter -> q12::q12 -> pter).
    The boy was 14 years old and responded to recombinant growth hormone.
    The patient was initially diagnosed as having Noonan syndrome.
    Aberration: Dicentric chromosome
    MIM#: 163950
    Variable band
  • Blanco J, Egozcue J, Vidal F.: Interchromosomal effects for chromosome 21 in carriers of structural reorganizations determined by fluorescence in situ hybridization on sperm nuclei. Hum. Genet. DOI 10.1007/s004390000295, April 19,2000. [PubMed: 10914679]
    46,XY,t(Y;7)(q12(paper states 3);p11).
    The patient is 41 years old and was ascertained after 15 years of infertility and after his wife had experienced two spontaneous abortions. The results were within normal limits described in controls.
    Aberration: Reciprocal translocation
  • Bordson B, Varela M: Yqs in an American family of scottish descent. Hum. Genet. 60:387-388, 1982. [PubMed: 7106778]
    Aberration: Marker chromosome
    Variable band
  • Borgaonkar D S, Hollander D H: Quinacrine fluorescence of the human Y chromosome. Nature 230:52, 1971. [PubMed: 4102824]
    46,XY,del(Y)(q12).&46,XY,del(Y)(pter -> q12:).&46,XY,dic(Y).&It was first pointed out here that the bright fluorescent segment of the long arm is not necessary for maleness. See also Borgaonkar et al (1969) under 0Yq100. Studies by constitutive heterochromatin banding technique on these Yq- cases were reported by Borgaonkar (1973), BD-OAS IX(No. 1):171-182.
    Aberration: TD,MA
    Variable band
  • Butler M G, Dev V G, Phillips J A III, Tho S P T, Trill J J, Tischfield J A, McDonough P G: A child with 45,X/46,X,del(Y)(q12) identified with a Y-specific probe. Fert. Ster. 46:718-720, 1986. [PMC free article: PMC5484411] [PubMed: 3019787]
    4 month old patient with normal female genitalia and multiple anomalies died from cardiac complications.
    mos45,X/46,X,del(Y)(q12)de novo.
    Aberration: Terminal deletion
    Variable band
  • Buys C H C M, Anders G J P A, Borkent-Ypma J M M, Blenkers-Platter J A M, Van der Hoek-van der Veen A Y: Familial transmission of a translocation Y/14. Hum. Genet. 53:125-127, 1979. [PubMed: 575349]
    46,XX,t(Y;14)(q12;p12).&"46,XX,t(Y;14)(Ypter -> Yq12::14p12 -> 14pter; 14qter -> 14p12::Yq12 -> Yqter)."
    Aberration: Simple translocation
    Variable band
  • 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]
    Case J.S. (K240/41/73) in this report.
    ?46,XY,der(22)t(Y;22)(q12;p13)mat.&A presumably Y-autosome translocation was found to be present in at least three generations with no apparent ill effects.
    Index Terms: Sterility ... male
    Variable band
  • Couturier-Turpin M H, Ingster O, Salat-Baroux J, Feldmann G.: Report of a family case of satellited Y chromosome associated with a severe oligoasthenoteratospermia. A review of the literature. Ann. Genet. 37:200-206, 1994. [PubMed: 7710256]
    Proband, was 26 years old and studied because of sterility and his father both had the Yqs chromosome.
    Aberration: SA,MA
    Index Terms: Oligoasthenoteratospermia
    Variable band
  • Curtis D J: Meiotic chromosomes in an infertile male with an unbalanced Y/13 translocation. Personal communication 37:249-254, 1977,1983. [PubMed: 885543]
    An individual with the karyotype 46,XY,der(13),t(Y;13)(q12;p11) is described. He has been infertile for 4 years. He is 6 ft. 1 in. tall. FSH and LH levels are normal. Meiotic studies showed that the abnormal bivalent 13 carrying the translocation was never involved with the normal XY bivalent.
    Aberration: Simple translocation
    Index Terms: Sterility ... male,Tallness
    Variable band
  • De Arce M A, Costigan C, Gosden J R, Lawler M, Humphries P: Further evidence consistent with Yqh as an indication of risk of gonadal blastoma in Y-bearing mosaic Turner syndrome. Clin. Genet. 41:28-32, 1992. [PubMed: 1633643]
    Index Terms: Gonadoblastoma,Turner syndrome
    Variable band
  • de Ravel T J L, Fryns J P, Van Driessche J, Vermeesch J R.: Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation. AJMG DOI=10.1002/ajmg.a.20372; 124A:259-262, 2003 and 2004. [PubMed: 14708098]
    45,X,der(Y;9)(Ypter->Yq12::9p21.1->9p22.2::9p22.2->9qter)de novo.
    The 12 year old girl with MR and multiple minor anomalies had a dysgerminoma of the left dysplastic ovary.
    Aberration: ST,DU
    Chromosomal Aneuploidy: 9p+
  • DesGroseilliers M, Lemyre E, Dallaire L, Lemieux N.: Tetrasomy Y by structural rearrangement: clinical report. AJMG DOI=10.1002/ajmg.10591; 111:401-404, 2002. [PubMed: 12210299]
    The 2-year-4-month old was evaluated because of global psychomotor dealy.
    47,X,idic(Y)(q12)x2[123]/45,X[9].
    The patient had MCA.
    Aberration: IC,DI
  • Diaz-Castanos L R, Rivera H, Gonzalez-Montes R H, Diaz M: "Translocation (Y;19)(q12;q13) and azoospermia." Ann. Genet. 34:27-29, 1991. [PubMed: 1952788]
    46,X,t(Y;19)(q12;q13).
    Patient was 30 years old.
    Aberration: Reciprocal translocation
    Index Terms: Azoospermia
    Variable band
  • Disteche C M, Luthy D, Haslam D B, Hoar D I: Prenatal identification of a deleted Y chromosome by cytogenetics and a Y-specific repetitive DNA probe. Hum. Genet. 67:222-224, 1984. [PubMed: 6745944]
    46,X,del(Y)(q12).
    Aberration: Terminal deletion
    Variable band
  • El Kalla S, Mathews A R, Menon N S: "del (18p) syndrome with complex tetralogy of fallot in an infant with 45,X,t(Y;18)(q12;q11.2)." AJMG 42:665-666, 1992. [PubMed: 1632434]
    45,X,t(Y;18)(q21;q11.2)de novo.
    The 16 month old infant had MCA.
    Aberration: Simple translocation
    MIM#: 187500
    Chromosomal Aneuploidy: 18p-
    Index Terms: Tetralogy of Fallot
    Variable band
  • Fernandez J L, Pereira S, Campos A, Goyanes V.: Assessment of Yqh translocations. J. Med. Genet. 31:978-979, 1994. [PMC free article: PMC1016705] [PubMed: 7534354]
    Two cases are presented.
    t(Xq;Xp),
    The presumed translocation of Yq to 21p was not confirmed by FISH using a probe of Yq.
    Aberration: Simple translocation
    Variable band
  • Fernandez J L, Pereira S, Campos A, Goyanes V. : Pseudoisodicentric nature of a normal length non-fluorescent Y chromosome. Ann. Genet. 37:215-217, 1994. [PubMed: 7710259]
    Fernandez J L, Valverde D, Gosalvez J, Pineiro C, Pereira S, Goyanes V.: Chromosome fragments with alphoid sequences derived from a pseudoisodicentric Y chromosome. J. Med. Genet. 33:84-86, 1996. [PMC free article: PMC1051822] [PubMed: 8825059]
    mos45,X(58%)/46,X,nf(Y)(42%).
    The 14 year old girl was studied because of Turner syndrome features (small stature, shield-shaped chest, primary amenorrhea and elevated gonadotrophins).
    Patient''s mother also showed a mosaicism 45,X(7%)/46,XX(53%).
    mos45,X/46,X,idic(Y)
    The patient was a 64 year old with Turner stigmata!
    Aberration: Marker chromosome
    Index Terms: Normal length & non-fluorescent Y
    Variable band
  • Fryns J P, Kleczkowska A, Dereymaeker M, van den Berghe H: "Mental retardation and Y/18 translocation \karyotype:46,XY,t(Y;8)(q12;q24)\ in father and son." Helv. Paediat. Acta 43:87-90, 1988. [PubMed: 3170249]
    46,XY,der(8),t(Y;8)(q12;q24)pat.
    Patient was 9 8/12 years old with Noonan syndrome.
    Aberration: Simple translocation
    MIM#: 163950
    Variable band
  • Gadow E C, Lippold S, Otano L, Serafin E, Scarpati R, Matayoshi T: Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes. AJMG 41:279-281, 1991. [PubMed: 1789279]
    46,XY,t(Y;13)(q12;p12),t(10;18)(q21;q21).
    Aberration: Reciprocal translocation
    Index Terms: Pregnancy ... loss
    Variable band
  • Geraedts J P M, Pearson P L, van der Ploem M, Vossepoel A M: Polymorphism for human chromosomes 1 and Y. Feulgen and UV DNA measurements. Exp. Cell Res. 95:9-14, 1975. [PubMed: 53155]
    Same comment as in 01q120 (Geraedts et al, 1975) applies here.
    Variable band
  • Gersen S L, Michaud L, Shearin D, Theve R, Lazar E, Ward B E: "An unusual pseudodicentric familial (15;Y) tandem fusion chromosome." Cytogenet. Cell Genet. 63:251, 1993.
    45,XY,ter rea(Y;15)(pter -> Yq12::15p11.2 -> cen -> 15qter)pat.
    Case ascertained because of increased risk per maternal serum screening. Ultrasound screening suggested a normal male genitalia.
    Aberration: DI,TA
    Variable band
  • Gil R, Galan F, Lopez-Gines C, Gregori-Romero M, Millet A, Pellin A, Llombart-Bosch A: 45,X/46,XYnf/47,XYnfYnf/46,X,dic(Ynf)(q12) mosaicism in a female patient with gonadal dysgenesis and signs of Turner syndrome. Rev. Clin. Esp. 189:23-25, 1991. [PubMed: 1924922]
    mos45,X/46,XYnf/47,XYnfYnf/46,X,dic(Ynf)(q12).
    Patient was 17 years old with primary amenorrhea and features of Turner syndrome.
    Aberration: Dicentric chromosome
    Index Terms: Amenorrhea
    Variable band
  • Giraldo A, Martinez I, Guzman M, Silva E: A family with a satellited Yq chromosome. Hum. Genet. 57:99-100, 1981. [PubMed: 7196383]
    Aberration: Satellited chromosome
    Variable band
  • Hoshi N, Fujita M, Mikuni M, Fujino T, Okuyama K, Handa Y, Yamada H, Sagawa T, Hareyama H, Nakahori Y, Fujieda K, Kant J A, Nagashima K, Fujimoto S.: Seminoma in a postmenopausal woman with a Y;15 translocation in peripheral blood lymphocytes and a t(Y;15)/45,X Turner mosaic pattern in skin fibroblasts. J. Med. Genet. 35:852-856, 1998. [PMC free article: PMC1051464] [PubMed: 9783712]
    The woman was 55 years old.
    Lymphocytes of the patient and her brother=46,X,-Y,t(Y;15)(q12;p13).,Skin of the patient=mos46,X,-Y,t(Y;15)(q12;p13)/45,X
    The brother had fathered 3 children. The woman presented with history of vomiting, weight loss, and loss of appetite.
    Aberration: Simple translocation
    MIM#: 273300
    Index Terms: Seminoma
  • Howard-Peebles P N, Stoddard G R: A satellited Yq chromosome associated with trisomy 21 and an inversion of chromosome 9. Hum. Genet. 34:223-225, 1976. [PubMed: 137204]
    50 cells were scored. 44% of the cells were found to have Yqs chromosome in satellite association.
    Proband in this report.
    47,XYqs,+21,inv(9)(p13q21).,47,XYqs,+21,inv(9)(pter -> p13::q21 -> p13::q21 -> qter).
    Aberration: SA,MA
    Index Terms: Down syndrome (Trisomy 21)
    Variable band
  • Hsu L Y F, Benn P A, Tannenbaum H L, Perlis T E, Carlson A D: Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: a large prenatal study. AJMG 26:95-101, 1987. [PubMed: 3812584]
    Familial studies are not recommended for such polymorphisms.
    Aberration: Marker chromosome
    Variable band
  • Huang B, Martin C L, Sandlin C J, Wang S, Ledbetter D H.: Mitotic and meiotic instability of a telomere association involving the Y chromosome. AJMG DOI=10.1002/ajmg.a.30146;129A:120-123, 2004. [PubMed: 15316974]
    Amnio=45,X,tas(Y;15)[4]/45,X[16].,Blood=45,X,tas(Y;15)[39]/45,X[10]/46,XY[1].,Father=45,X,tas(Y;19)
    The amniocentesis was done because of an aborted prior pregnancy with non-immune hydrops.
    Telomere association (TAS) refers to end-to-end fusions of human chromosomes, forming a dicentric chromosome with one of the centromeres inactivated. Jumping translocations (JT) designates a translocation of the same chromosomal fragment to different recipient chromosomes in different cell lines of a single individual.
    Aberration: Terminal rearrangements
    Index Terms: Telomere association
  • Iinuma K, Wertelecki W, Dev V G: Yqs in an American family of Scottish descent. Hum. Genet. 68:350, 1984. [PubMed: 6510915]
    mos46,XYqs/46,XYqs,+9.
    Aberration: Marker chromosome
    Variable band
  • Kalz L, Schwanitz G.: Characterization of constitutive heterochromatin, in particular of fluorescence polymorphisms, in a central European population. Int. J. Hum. Genet. 4:1-10, 2004.
    Kalz L, Schwanitz G.: Characterization of constitutive heterochromatin, in particular of fluorescence polymorphisms, in a central European population. Int. J. Hum. Genet. 4:1-10, 2004.
    Case 2:
    46,XX,der t(Y;15)(q12;p11.2)pat.
    Aberration: Simple translocation
  • Kelly P C, Blake W W, Davis J R: Tandem Y/6 translocation with partial deletion 6 (p23 to pter). Clin. Genet. 36:204-207, 1989. [PubMed: 2791334]
    45,X,tan(Y;6)(q12;p23)de novo.&"45,X,tan(Y;6)(6qter -> 6p23::Yqter -> Ypter)de novo."
    The male infant had multiple malformations including microcephaly, cerebrocortical atrophy, hypertelorism, malformed ears, cardiac malformation, undescended testes, equinovarus and simian crease.
    Aberration: Tandem translocation
    Chromosomal Aneuploidy: 6p-
    Variable band
  • Knuutila S, Gripenberg U: The fluorescence pattern of a human Yq+ chromosome. Hereditas 70:307-308, 1972. [PubMed: 4680640]
    Aberration: Marker chromosome
    Variable band
  • Laurie D A, Palmer R W, Hulten M A: "Studies on chiasma frequency and distribution in two fertile men carrying reciprocal translocations; one with a t(9;10) karyotype and one with a t(Y;10) karyotype." Hum. Genet. 68:235-247, 1984. [PubMed: 6500577]
    46,X,-Y,+der(Y),t(Y;10)(Ypter -> Yq12::10q24 -> 10qter)pat.
    Case S.M.
    46,X,-Y,+der(Y),t(Y;10)(q12;q24).
    Aberration: Reciprocal translocation
    Variable band
  • Leppig K A, Saal H M, Simpson E, Disteche C M: Distal deletion of Yq in a patient with phenotype of Russell-Silver syndrome. AJHG 49 (Suppl.):301, 1991.
    46,X,del(Y)(q12).
    Patient was 11 months old with growth deficiency. Father''s Y was normal.
    Aberration: Terminal deletion
    MIM#: 180860
    Chromosomal Aneuploidy: Yq-
    Variable band
  • Leschot N J, Velden J v d, Marinkovic-Ilsen A, Darling S M, Nijenhuis L E: "Homozygosity for a Y/22 chromosome translocation: t(Y;22)(q12;p12/13)." Clin. Genet. 29:251-257, 1986. [PubMed: 3698333]
    Product of a consanguinous mating; although the mother was impregnated by another man via AID.
    46,XX,22p+,22p+.
    Aberration: Marker chromosome
    Variable band
  • Limon J, Gibas Z, Kaluzewski B, Moruzgala T: Demonstration of two different regions of lateral asymmetry in human Y chromosome. Hum. Genet. 51:247-252, 1979. [PubMed: 92451]
    Aberration: Marker chromosome
    Variable band
  • Lin S J, Ko Y H, Nakahori Y, Nakagome Y.: Long Y-associated (GATA)n alleles were observed in a few ethnic groups in Asia. Jpn. J. Hum. Genet. 41:243-246, 1996. [PubMed: 8771989]
    DYS19 was analyzed in Chinese, Japanese, Evenks, Caucasians, and Negroes.
    Aberration: Marker chromosome
    Variable band
  • Lopez-Pajares I, Delicado A, Cobos P V, Sanchez Corral F: An azoospermic male with a Y/autosome translocation. Hum. Genet. 46:155-158, 1979. [PubMed: 422199]
    46,X,t(Y;10)(q12;p13).&"46,X,t(Y;10)(Yqter -> Yq12::10p13 -> 10qter;Ypter -> Yq12::10p13 -> 10pter)."&Parent''s karyotypes were normal. Patient is 29-year-old sterile male with normal male physique and normal sexual organs, except for a left varicocele.
    Aberration: Reciprocal translocation
    Index Terms: Azoospermia,Sterility ... male,Varicocele
    Variable band
  • Mailhes J B, Pittaway D E, Rary J M, Chen H, Grafton W D: H-Y antigen-positive male pseudohermaphroditism with 45,X/46,XYq- mosaicism. Hum. Genet. 53:57-63, 1979. [PubMed: 535903]
    42 year old male with short stature, microphallus, hypospadias, a bifid scrotum, abdominal undifferentiated testes, a uterus, bilateral fallopian tubes is described in this report. An H-Y antigen assay on skin fibroblasts was posivive, indicating that the locus for this antigen is not located in the brightly fluorescent region of the Y chromosome.
    Index Terms: Hypospadias,Penis ... hypoplastic (microphallus),Pseudohermaphroditism,Scrotum ... bifid,Stature ... short (low)
    Variable band
  • Malkova J, Michalova K, Chrz R, Kobilkova J, Motlik K, Starka L: Dicentric Yp chromosome in a patient with the gonadal dysgenesis and gonadoblastoma. Humangenetik 27:251-253, 1975. [PubMed: 1150246]
    46,X,dic(Y)(q12)/46,X,del(Y)(q12)/45,X.&The intensively fluorescent distal part of the Yq was deleted in both the Yq- and Y-dicentric chromosome.
    Aberration: TD,DI
    Index Terms: Gonadal dysgenesis,Gonadoblastoma
    Variable band
  • Maraschio P, Tupler R, Dainotti E, Cartinovis M, Tiepolo L: "Molecular analysis of a human Y;1 translocation in an azoospermic male." Cytogenet. Cell Genet. 65:256-260, 1994. [PubMed: 8258300]
    Patient D.G., 150660.
    46,X,t(Y;1)(q12;p34.3)de novo.
    Aberration: Reciprocal translocation
    Index Terms: Azoospermia
    Variable band
  • Maraschio P, Zuffardi O, Caiulo A, Dainotti E, Piantanida M, Rivera H, Tupler R: Deletion of specific sequences or modification of centromeric heterochromatin are responsible for Y chromosome centromere inactivation. Hum. Genet. 85:491-494, 1990. [PubMed: 2227932]
    Case 1.
    mos45,X/46,X,i(Y)(q12).
    Aberration: IC,DI
    Variable 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,t(Y;3)(q12;p211).
    Male with azoospermia was studied.
    Aberration: Reciprocal translocation
    Index Terms: Azoospermia
    Variable band
  • Micic M, Nikolis J, Micic S: "Clinical and meiotic studies in an infertile man with Y;13 translocation." Hum. Reprod. 7:1118-1120, 1992. [PubMed: 1400936]
    46,X,t(Y;13)(q12;q14).&"46,X,der(Y),t(Yq;13q)pat."
    The 35 year old patient presented because of infertility and a son with derived Y.
    Aberration: Reciprocal translocation
    Variable band
  • Miro R, Cahallin R M, Coll M D, Marina S, Egozcue J: An XX male with a 46,XX/47,XX,+Y(q12 to qter) karyotype. Hum. Genet. 60:82-84, 1982. [PubMed: 7076251]
    Variable band
  • Moreau N, Teyssier M, Rollet J: "A new case of (Y;1) balanced reciprocal translocation in an infertile man with Hodgkin''s disease." J. Med. Genet. 24:379-380, 1987. [PMC free article: PMC1050108] [PubMed: 3612712]
    Patient was 31 years old.
    46,X,t(Y;1)(q12;p13).
    Aberration: Simple translocation
    Index Terms: Sterility ... male
    Variable band
  • Morel F, Dugueperoux I, McElreavey K, Le Bris M-J, Herry A, Parent P, Le Martelot M-T, Fellous M, De Braekeller M.: Transmission of an unbalanced (Y;1)( translocation in Brittany, France. J. Med. Genet. 39:e52-e52, 2002. [PMC free article: PMC1735235] [PubMed: 12205122]
    Two unrelated couples (A and B) with fertility problems were studied and their wives had the same karyotypes.
    46,XX,der(1)t(Y;1)(q12;p36).ish der(1)t(Y;1)(q12;p36)(tel1p+,DYZ1+).,Fathers of both wives (VII.4 and VI.2)=46,XY,t(Y;1)(q12;p36).,Couple A had a son (IX.1 and a daughter (IX.2) both carriers of the same translocation.
    Aberration: Simple translocation
    Index Terms: Brittany, France
  • Nazarenko S A, Puzyrev V P: Genetic drift of marker Y chromosome del(Y)(q12) in Khanty from the lower Ob river. Hum. Genet. 71:100-102, 1985. [PubMed: 3862644]
    Aberration: Marker chromosome
    Variable band
  • Nielsen J, Rasmussen K: Y/autosomal translocations. Clin. Genet. 9:609-617, 1976. [PubMed: 1277572]
    Presumptive familial Y/autosome (15p and 22p) translocations are described.
    Variable band
  • Niihira S, Fujita H, Otzuka N, Hashimoto T, Nagano M, Kondou T: "A 14 year-old girl with Turner syndrome of complicated karyotype; 45,X/47,XY,+18,-19,+der(19),t(Y;19)(q12;p13.3)." Jpn. J. Hum. Genet. 30:307-311, 1985. [PubMed: 3836314]
    Patient, born on 100270, exhibited Turner syndrome, gonadal dysgenesis, short sternum and moderate mental retardation.
    mos45,X/47,XY,+18,-19,+der(19),t(Y;19)(q12;p13.3).
    Aberration: Simple translocation
    Index Terms: Gonadal dysgenesis,Sternum ... short,Turner syndrome
    Variable band
  • Nikolis J, Ivanovic K, Diklic V: "Partial trisomy 13q resulting from a paternal reciprocal Yq;13q translocation." J. Med. Genet. 28:425-426, 1991. [PMC free article: PMC1016915] [PubMed: 1870103]
    46,X,t(Y;13)(q12;q14).&"46,X,der(Y)t(Y;13)(Ypter -> Yq12::13q14 -> 13qter)pat."
    Patau syndrome characteristics were present. Father was supposedly azoospermic]
    Aberration: Reciprocal translocation
    Index Terms: Azoospermia
    Variable band
  • Phelan M C, Schwartz C E, Saul R A, Schroer R J: Cytogenetic and molecular studies of a Y/22 translocation. Proc. Greenwood Genet. Ctr. 6:32-36, 1987.
    Case 1, P.G. (GGC-4095).
    46,XX,-22,+der(22)t(Y;22)(q12;p11).
    Case 2, G.C. (GGC-6636).
    46,XY,-22,+der(22)t(Y;22)(q12;p11).
    Aberration: Simple translocation
    Variable band
  • Pinckert T L, Lebo R V, Golbus M S: Rapid determination of fetal sex by deoxyribonucleic acid amplification of Y chromosome-specific sequences. Am. J. Obstet. Gynecol. 161:693-698, 1989. [PubMed: 2782353]
    46,XX,-15,+t(Y;15)(q12;p13).&"46,XX,-15,+t(Y;15)(5qter -> 5p13::Yq12 -> Yqter)."
    Demonstration of an apparently useful method]
    Aberration: Simple translocation
    Index Terms: Fetal sexing
    Variable band
  • Pinho M J, Neves R, Costa P, Ferras C, Sousa M, Alves C, Almeida C, Fernandes S, Silva J, Ferras L, Barros A. : Unique t(Y;1)(q12;q12) reciprocal translocation with loss of the heterochromatic region of chromosome 1 in a male with azoospermia due to meiotic arrest: a case report. Hum. Reprod. 20:689-696, 2005. [PubMed: 15665019]
    46,X,t(Y;1)(q12;q12)de novo.ish t(Y;1)(DXYS129+,SRY+,DYZ3+,DYZ1+,Z43206-,D1S3739+,D1Z3+,D1Z1-,DYZ1+,Z43206+)
    A 35 year old man with a 10 year history of infertility is reported.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q-
    Index Terms: Azoospermia
  • Qumsiyeh M B, Dalton J D, Gordon P L, Wilroy R S, Jr, Tharapel A T: "Deletion of chromosome 15pter to q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome." AJMG 42:109-111, 1992. [PubMed: 1308348]
    45,X,-15,-Y,+t(Y;15)(Ypter->Yq12::15q11.2->15qter).
    Patient evaluated at 4 years of age because of excessive feeding and behavior problems.
    Aberration: Simple translocation
    Variable band
  • Reitalu J, Bergman S, Ekwall B, Hall B: Correlation between Y chromosome length and fluorescence intensity of Y chromatin on interphase nuclei. Hereditas 72:261-268, 1972. [PubMed: 4680649]
    Aberration: Marker chromosome
    Variable band
  • Rigola M A, Carrera M, Ribas I, De La Iglesia C, Mendez B, Egozcue J, Fuster C.: Identification of two de novo partial trisomies by comparative genomic hybridization. Clin. Genet. 59:106-110, 2001. [PubMed: 11260211]
    Patient 1 was 3 years old with muscular hypotonia, cognitive defects, and behavioral and speech defects.
    46,X,add(Y)(q12),rev ish der(Y)t(Y;15)(q12;q25,enh(15q25).
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 15q+
    Index Terms: CGH
    No band
  • Rodriguez-Gomez M T, Martin-Sempere M J, Abrisqueta J A: C-band length variability and reproductive wastage. Hum. Genet. 75:56-61, 1987. [PubMed: 3804333]
    "---results indicate that these variabilities are not directly related to reproductive wastage."
    Aberration: Marker chromosome
    Variable band
  • Schmid M, Haaf T, Solleder E, Schempp W, Leipoldt M, Heilbronner H: Satellited Y chromosomes: structure, origin, and clinical significance. Hum. Genet. 67:72-85, 1984. [PubMed: 6745929]
    Aberration: SA,MA
    Variable band
  • Schmid M: Demonstration of Y/autosomal translocations using distamycin A. Hum. Genet. 53:107-109, 1979. [PubMed: 535895]
    t(Y;22)(q1;p1).
    Aberration: Simple translocation
    Variable band
  • Schmidtke J, Schmid M: Regional assignment of a 2.1-kb repetitive sequence to the distal part of the human Y heterochromatin. Hum. Genet. 55:255-257, 1980. [PubMed: 7450768]
    Variable band
  • Shabtai F, Orlin J, Hart J, Halbrecht I, Klar D, Friedman J: "Different inducibility and possible significance of several concomitant ""fragile sites"" in two brothers." Hum. Genet. 74:85-89, 1986. [PubMed: 3019870]
    Aberration: Fragile sites
    Variable band
  • Sheehy R R, Brown M G, Warren R J, Schwartzman M, Magenis R E: Y-derived sequences detected in a 45,X male by in situ hybridization. AJMG 27:831-839, 1987. [PubMed: 3321991]
    A two month old boy was investigated for hematological disorder.
    45,X,psu dic(5) t(Y;5)(5qter -> cen -> 5p13::Yq12 -> Ypter).
    Aberration: Simple translocation
    Variable band
  • Siffroi J P, Benzacken B, Angelopoulou R, Le Bourhis C, Berthaut I, Kanafani S, Smahi A, Wolf J P, Dadoune J P.: Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia. J. Med. Genet. 38:802-806, 2001. [PMC free article: PMC1734752] [PubMed: 11732493]
    45,X,-13,-Y,+psu dic(Y),t(Y;13)(q12;p11.2)[27]/45,X,-13,-Y,+psu dic(13)t(13;Y)(p11.2;q12)[23].
    The patient, a West Indian man, was 20 years old, with ejaculatory problems.
    Aberration: DI,ST
    Index Terms: Oligozoospermia
  • Stella M, Rossi R, Bonfante A, Rossi G: A new case of human Y chromosome with satellites on the long arm. J. Genet. Hum. 28:39-45, 1980. [PubMed: 7190602]
    Aberration: Satellited chromosome
    Variable band
  • Takano T, Yamanouchi Y, Kawashima S, Date M, Hashira S, Kida M, Abe T, Nakahori Y, Nakagome Y: 11q trisomy detected by fluorescence in situ hybridization. Clin. Genet. 44:324-328, 1993. [PubMed: 8131305]
    mos45,X/46,X,t(Y;11)(q12;q14?).
    Patient had congenital heart disease, multiple minor anomalies, developmental delay, and died suddenly at the age of 1 year and 4 months.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: Yq-,11q+
    Index Terms: FISH
    Variable band
  • Takano T, Yamanouchi Y, Kawashima S, Date M, Hashira S, Kida M, Abe T, Nakahori Y, Nakagome Y: 11q trisomy detected by fluorescence in situ hybridization. Clin. Genet. 44:324-328, 1994. [PubMed: 8131305]
    mos45,X(3 cells)/46,X,+der(Y)t(Y;11)(q12;q14?)(37 cells).
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 11q+
    Variable band
  • Tsenghi C, Metaxotou C, Kalpini-Mavrou A, Strataki-Benetou M, Matsaniotis N: Parental chromosome translocations and fetal loss. Obst. Gynecol. 58:456-458, 1981. [PubMed: 7279340]
    46,X,9qh+,t(Y;9)(q12;p24).
    Couple No. 3 in Group I with 4 abortions.
    Aberration: Simple translocation
    Variable band
  • Tsita K P, Vallas O S, Velissariou P J, Lyberatou-Moraitou E K: A case of prenatal diagnosis of a familial satellited Yq chromosome. Clin. Genet. 35:70-74, 1989. [PubMed: 2924432]
    46,XYqs
    No abnormalities were present in the three generations studied.
    Aberration: SA,MA
    Variable band
  • Turleau C, Chavin-Colin F, Seger J, Sorin M, Salet D, de Grouchy J: Satellited Y chromosome (Yqs) and nucleolar organizer region having occurred de novo. Ann. Genet. 21:239-242, 1978. [PubMed: 314264]
    Parents were first cousins. The child had severe mental retardation, facial dysmorphism, congenital heart disease, and amaurosis, and died at 6 months of age.
    Aberration: Satellited chromosome
    Index Terms: Amaurosis,Congenital heart defects (cardiovascular anomalies),Facial dysmorphism
    Variable band
  • Velissariou V, Sismani C, Christopoulou S, Kaminopetros P, Hatzaki A, Evangelidou P, Koumbaris G, Bartsocas C S, Stylianidou G, Skordis N, Diakoumakos A, Patsalis P C.: Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: cytogenetic and molecular analysis. Europ. J. Med. Genet. 50: 291-300, 2007. [PubMed: 17584536]
    Cas1=46,XYqh- or 46,X,del(Y)(q12).,Case 2 (father of case 1)=46,XYqs. Satellite derived from chromosome 15. ,Case 3=47,XYqsYqs[20]-amnio.,Father=46,XYqs[20]-blood
    Aberration: TD,SAT
    Chromosomal Aneuploidy: Yq-
    Index Terms: Yqs
  • Verma R S, Gogineni S K, Kleyman S M, Conte R A.: Characterisation of a satellited non-fluorescent Y chromosome (Ynfqs) by FISH. J. Med. Genet. 34:817-818, 1997. [PMC free article: PMC1051087] [PubMed: 9350813]
    Fetus=46,XYnfqs.,Father=46,XYnfqs.
    The satellited material came from chromosome 15 short arm.
    Aberration: SA,MA
  • 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;2)(q12;q12).
    Aberration: Reciprocal translocation
    Variable band
  • Warter S, Ratel J L: Translocation of the Y chromosome to an autosome in a boy with hypogonadism. Hum. Genet. 33:335-336, 1976. [PubMed: 964995]
    46,XY,ins(16;Y)(q12;q12).&"46,XY,ins(16;Y)(16pter -> 16q12::Yq12 -> Yqter::16q12 -> 16 qter; Ypter -> Yq12)."&It would have been desirable -> have had data from quinacrine banding technique in this interesting chromosomal rearrangement.
    Aberration: Simple translocation
    Index Terms: Gonadal dysgenesis ... hypogonadism,Hypogonadism
    Variable band
  • Watson W J, Katz V L, Albright S G, Rao K W, Aylsworth A S: Monozygotic twins discordant for partial trisomy 1. Obst. Gynecol. 76:949-951, 1990. [PubMed: 2216262]
    mos46,XY/46,X,-Y,+der(Y),t(Y;1)(q12;q21).
    Abnormalities in the infant included micrognathia and microtia.
    Aberration: Simple translocation
    Index Terms: Twins
    Variable band
  • Wisniewski L, Higgins J V: Mosaicism presumably related to a Y/6 translocation in a boy with multiple congenital abnormalities. J. Med. Genet. 14:378-381, 1977. [PMC free article: PMC1013625] [PubMed: 592355]
    mos 46,X,t(Y;6)(q12;q27)/47,X,t(Y;6)(q12;q27)+derY.&A 3 1/2 year old boy was found -> have this mosaic chromosome make up in blood preparations.&Parent''s karyotypes were normal.&"mos 46,X,t(Y;6)(6pter -> 6q27::Yq12 -> Yqter;Ypter -> Yq12::?)/47,X,t(Y;6)(6pter -> 6q27::Yq12 -> Yqter;Ypter -> Yq12::?)+derY(Ypter -> Yq12::?)."&The small Y did not have the fluorescent segment, therefore the breakpoint must be at the beginning of band q12.
    Aberration: Simple translocation
    Variable band
  • Xia J, Li L, Dai H, Xu J, Xu F, He X: G-banded chromosomes of 3,415 liveborn infants. Chin. Med. J. 97:921-927, 1984. [PubMed: 6443290]
    Case No. -256,171280.
    46,XY,t(Y;15)(q12;p12)pat.
    Case No. -621,090581.
    45,X,ter rea(Y;13)(q12;p11).
    Aberration: ST,TA
    Variable band
  • Yamada K, Ohta M, Yoshimura K, Hasekura H: A possible association of Y chromosome heterchromatin with stature. Hum. Genet. 58:268-270, 1981. [PubMed: 7327547]
    Variable band
  • Yoshida A, Nakahori Y, Kuroki Y, Miura K, Shirai M.: An azoospermic male with an unbalanced autosomal-Y translocation. Jpn. J. Hum. Genet. 42:451-455, 1997. [PubMed: 12503194]
    46,XY,der(15)t(Y;15)(q12;p11)
    Testicular biopsy revealed Sertoli cells only in this 35 year-old mlae who was being evaluated for infertility.
    Aberration: Simple translocation
    MIM#: 415000
    Index Terms: Azoospermi(c)
  • Zech L: Investigation of metaphase chromosomes with DNA-binding fluorochromes. Exp. Cell Res. 58:463, 1969.
    The characteristic brightly fluorescent segment of the long arm of the human Y chromosome was first reported here.
    Aberration: Marker chromosome
    Variable band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106113
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