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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Aviv H, Heller D, Fajardo A, Hoot A, Mavaro L.: Sex chromosome mosaicism in gonads of a fetus with cystic hygroma and deletion of the short arm of Y chromosome including loss of SRY. AJMG 102:157-160, 2001. [PubMed: 11477609]46,X,del(Y)(p11.2).ish del(Y)(SRY-).Pregnancy was terminated.Aberration: Terminal deletion
- Bernstein R, Wadee A, Rosendorff J, Wessels A, Jenkins T: Inverted Y chromosome polymorphism in the Gujerati Muslim Indian population of South Africa. Hum. Genet. 74:223-229, 1986. [PubMed: 3781558]
Spurdle A, Jenkins T: The inverted Y-chromosome polymorphism in the Gujarati Muslim Indian population of South Africa has a single origin. Hum. Hered. 42:330-332, 1992. [PubMed: 1459580]52 males were examined.46,XY,inv(Y)(p11.2q11.23).Y-specific probes, p49a/TaqI and p49a/PvuII, were used.Aberration: Inversion pericentricIndex Terms: Gujarati MuslimNegative band - Bussani Mastellone C, Giovannucci Uzielli M L, Guarducci S, Nathan G: Four cases of trisomy 9p syndrome with particular chromosome rearrangements. Ann. Genet. 34:115-119, 1991. [PubMed: 1746881]Case 1: B.N.46,X,der(9)t(Y;9)(Ypter->Yp11.2::9q13->9pter)pat.,Father=46,XY,t(Y;9)(Yqter->Yp11.2::9q13->9qter;,Ypter->Yp11.2::9q13->9pter).Patient has normal male genitalia with other MCA.Aberration: Reciprocal translocationChromosomal Aneuploidy: 9p+Negative band
- Gole L, Crolla J A, Thomas S N, Jacobs P A, Dennis N R. : Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12). AJMG DOI=10.1002/ajmg.a.20482; 125A:177-180, 2003 and 2004. [PubMed: 14981720]Proband (II-3)=46,XX,-15,+der(Y)(p11.2;q12)pat.,Father (I-1)=46,X,t(Y;15)(p11.2;q12).,Brother (II-2)=46,X,-Y,-15,+der t(Yp15p)pat,+der t(Yq15q)pat.,Brother (II-4)=46,X,-Y,+der(15)(p11.2;q12)pat.The proband (II-3) was being evaluated for obesity at age 16.Aberration: Reciprocal translocationMIM#: 480100Chromosomal Aneuploidy: 15q-;Yp-Index Terms: GABRG3,TSPY
- Iwamoto T, Nakahori Y, Nakagome Y, Yajima M, Satomi Y, Osada T.: Pericentric inversion with a minute deletion of the Y chromosome in a severely oligospermic man. Clin. Genet. 48: 272-274, 1995. [PubMed: 8825608]46,X,inv(Y)(p11.2q11.23)de novo.The man was 38 years old with an history of infertility.A deletion involving nine loci within the most distal part of the euchromatic region of the long arm was detected.Aberration: Inversion pericentricIndex Terms: Oligospermi(c)Negative band
- Kadandale J S, Wachtel S S, Tunca Y, Martens P R, Wilroy R S, Jr., Tharapel A T.: Deletion of RBM and DAZ in azoospermia: evaluation by PRINS. AJMG DOI=10.1002/ajmg.10107;107:105-108, 2002. [PubMed: 11807882]45,der(X)t(X;Y)(p22.3;p11.2)[8]/46,t(X;Y)(p22.3;p11.2)[12].The patient was a normal appearing 27-year-old man with infertility.PRINS confirmed the X;Y translocation, including transfer of the SRY gene toYp, and deletion of RBM and DAZ from the patient''s genome.Aberration: Simple translocationMIM#: 400003,400006Chromosomal Aneuploidy: Yp-Index Terms: RNA binding motif (RBM),Deleted in azoospermia (DAZ)
- Kelly T E, Franko J B, Rogol A, Golden W L.: Discordant phenotypes and 45,X/46,X,idic(Y). J. Med. Genet. 35:862-864, 1998. [PMC free article: PMC1051466] [PubMed: 9783714]Case 1 was a 54 year old male with ambiguous genitalia. Case 2 was a 13 year old female with short stature.Both cases were mos45,X/46,X,idic(Y)(p11.2). Each of them had one cell each with 46,XY and a second idic(Y).Aberration: IC,DI
- Klein O D, Backstrand K, Cotter P D, Marco E, Sherr E, Slavotinek A.: Case report: Y;6 translocation with deletion of 6p. Clin. Dysmorph. 14:93-96, 2005. [PubMed: 15770132]Blood at age 6=46,XX,der(6)t(Y;6)(p11.2;p23).ish der(6)(SRY+,6pTEL48-).,Earlier amnio and blood=46,XX.The phenotypic male patient had growth retardation, a Dandy-Walker malformation, cardiac and urogenital abnormalities, bilateral hearing loss, cleft palate, severe kyphoscoliosis, minor digital anomalies, and a hypoplastic phallus.Father had normal XY karyotype with SRY locus present at Yp11.3.Aberration: Simple translocationChromosomal Aneuploidy: 6p-
- Kohn B, Kleyman S M, Conte R A, Macera M J, Glassberg K, Verma R S.: Characterization of an isodicentric Y-chromosome for the long arm in a newborn with mixed gonadal dysgenesis. Ann. Genet. 40:10-13, 1997. [PubMed: 9150844]mos46,X,idic(Y)(p11.2)[77]/46,X,idic(Y)(p11?)[2]/,47,XY,idic(Y)(p11.2)[2]/47,X,idic(Y)(p11.2),,+idic(Y)(p11.2)[1]/46,XY[1].Aberration: Dicentric chromosomeNo band
- Lattanzi W, Di Giacomo M C, Lenato G M, Chimienti G, Voglino G, Resta N, Pepe G, Guanti G.: A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome. Hum. Genet. DOI=10.1007/s00439-004-1238-z; 116:395-401, 2005. [PubMed: 15726419]de(Y)(p11.2) with breakpoints at RP11-573023 distally and RP11-661L1(TSPY) proximally.The first case was a 32 year old oligozoospermic man identified during a screening for Y microdeletions on a sample of infertile males. The second one was found among amniotic fluid samples tested by quantitative fluorescence-polymerase chain reaction and cytogenetic analysis for prenatal diagnosis.The deletion is spanning approximately 2.5 Mb.Aberration: Interstitial deletionMIM#: 410000,300391Chromosomal Aneuploidy: Yp-Index Terms: Amelogenin
- Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H, Iwama Y, Kondoh I, Fukushima Y, Nako Y, Matsui I, Urakami T, Aritaki S, Hara M, Suzuki Y, Chyo H, Sugio Y, Hasegawa T, Yamanaka T, Tsukino R, Yoshida A, Nomoto N, Kawahito S, Aihara R, Toyota S, Ieshima A, Funaki H, Ishitobi K, Ogura S, Furumae T, Yoshino M, Tsuji Y, Kondoh T, Matsumoto T, Abe K, Harada N, Miike T, Ohdo S, Naritomi K, Abushwereb A K, Braun O H, Schmid E: Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. AJMG 31:565-589, 1988.Case 29.46,X,r(X)(p11.2q13).Case 37.46,X,inv(Y)(p11.2q11.23)pat.Case 60.46,X,r(Y)(p11.2q11.2).Aberration: Ring chromosomeMIM#: 147920Index Terms: Kabuki Make-up (Niikawa-Kuroki) syndromeNegative band
- Yenamandra A, deangelo P, Aviv H, Suslak L, Desposito F.: Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 4 in a 45,X male child. AJMG 72:125-128, 1997. [PubMed: 9382131]45,X,ins(4;Y)(4pter->4p15.3::Yp11.3->Yp11.2::,4p15.3->4qter)de novoThe propositus was a male with malformations including eye coloboma, umbilical hernia, general hypotonia, microcephaly, joint hypermobility, and right undescended testicle.Aberration: Direct insertion between two chromosomesMIM#: 480000
- Yong R Y Y, Gan L S H, Chang Y M, Yap E P H.: Molecular characterization of a polymorphic 3-Mb deletion at chromosome Yp11.2 containing the AMELY locus in Singapore and Malayasia populations. Hum. Genet. 122: 237-249; DOI=10.1007/s00439-007-0389-0, 2007. [PubMed: 17588179]Aberration: ID,TDChromosomal Aneuploidy: Yp-Index Terms: AMELY
- 0Yp112 - Chromosomal Variation in Man0Yp112 - Chromosomal Variation in Man
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