- Same entry as in 0Xp22.3 (Kirchhoff et al, 2001).
- Brandt C A, Hindkjaer J, Stromkjaer H, Pedersen S, Sunde L, Kolvraa S: Molecular cytogenetics: applications in clinical genetics. Europ. J. Obstet. Gynceol. 50:235-242, 1993. [PubMed: 8262301]Case 4:46,X,inv(Y)(pq).Aberration: Inversion pericentricNo band
- Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]Case No. 42=45,X/46,X,+i(Yp)[20%].nuc ishYp(probex2).dim(Xpter->qter)enh(Yp10->pter)Case ascertained prenatally.Retrospectively, 20% mosaicism of an i(Yp) was found on G banding.Aberration: Isochromosome
- Ogata T, Tyler-Smith C, Purvis-Smith S, Turner G: Chromosomal localisation of a gene(s) for Turner stigmata on Yp. J. Med. Genet. 30:918-922, 1993. [PMC free article: PMC1016599] [PubMed: 8301645]46,X,t(Xp;Yp).Patient was a female.Aberration: Simple translocationIndex Terms: Turner syndromeNo band
- Pezzolo A, Perroni L, Gimelli G, Arslanian A, Porta S, Gandullia P, Gandullia E: Identification of ring Y chromosome: cytogenetic analysis, southern blot and fluorescent in situ hybridization. Ann. Genet. 36:121-125, 1993. [PubMed: 8215218]Patient was a 16 year old male.mos45,X/46,X,r(Y)/47,X,r(Y),+r(Y)/48,X,r(Y),+r(Y),+r(Y).Aberration: Ring chromosomeNo band
Publication Details
Copyright
Copyright © 2011-2013, Digamber
Borgaonkar.
Publisher
National Center for Biotechnology Information (US), Bethesda (MD)
NLM Citation
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-. 0Yp100.