- Artifoni L, Baccichetti C, Piovan E, Anglani F, Lenzini E, Goppion G, Tenconi R: Replication patterns of human X isochromosomes by high-resolution banding. Cytogenet. Cell Genet. 36:649-651, 1983. [PubMed: 6661931]45,X/46,X,idic(X)(p11.22).Aberration: IsochromosomePositive band
- Callen D F, Eyre H J, Dolman G, Garry-Battersby M B, McCreanor J R, Valeba A, McGill J J.: Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation. J. Med. Genet. 32:113-116, 1995. [PMC free article: PMC1050231] [PubMed: 7760319]mos45,X/46,X,r(X).At age 11 years she was evaluated for Turner stigmata.Two patients are discussed.47,XY,+r(X).At 2 1/2 years of age this male patient was evaluated because of global developmental delay.Aberration: Ring chromosomeIndex Terms: Turner syndrome ... X inactivationPositive band
- Journel H, Melki J, Turleau C, Munnich A, de Grouchy J: Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X. AJMG 35:142-147, 1990. [PubMed: 2301467]46,X,t(X;22)(p11.22;p11).The Rett syndrome was diagnosed in a patient whose mother and sister also were carriers for the same translocation.It is suggested that the localization of a RS related gene to Xp is likely.Aberration: Simple translocationMIM#: 312750Positive band
- Nowaczyk M J M, Ramsay J A, Mohide P, Tomkins D J.: Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism. AJMG 77:306-309, 1998. [PubMed: 9600741]mos45,X[14]/46,X,r(X)(p11.22q12)[7]The 19 week old fetus had anencephaly and diaphragmatic hernia.Aberration: Ring chromosomeChromosomal Aneuploidy: Xp-; Xq-
Publication Details
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Copyright © 2011-2013, Digamber
Borgaonkar.
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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-. 0Xp1122.