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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- 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-
- 0Xp1122 - Chromosomal Variation in Man0Xp1122 - Chromosomal Variation in Man
- Homo sapiens full open reading frame cDNA clone RZPDo834C127D for gene FKBP2, FK...Homo sapiens full open reading frame cDNA clone RZPDo834C127D for gene FKBP2, FK506 binding protein 2, 13kDa complete cds, without stopcodongi|47115208|emb|CR407636.1|Nucleotide
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