NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
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- Baccichetti C, Lenzini E, Artifoni L, Caufin D, Marangoni P: Terminal deletion of the short arm of chromosome 5. Clin. Genet. 34:219-223, 1988. [PubMed: 3233775]Case 1: Proband B. G. and other relatives.Mother:46,XX,del(5)(p15.32).&Sons:46,XY,der del(5)(p15.32)mat.Case 2.46,XY,del(5)(p15.32).Aberration: Terminal deletionChromosomal Aneuploidy: 5p-Positive band
- Joyce C A, Ross F M, Dennis N R, Wyre N D, Barber J C K.: Multipaint FISH: a rapid and reliable way to define cryptic and complex abnormalities. Clin. Genet. 56:192-199, 1999. [PubMed: 10563478]Case 2:46,XX,der(5)(p14.2p15.32)t(5;6)(p15.32;p25.1),der(6)t(5;6)(p15.32;p25.1).ish der(5)(36I2+,wcp6+,D5S23-,wcp5+),,der(6)(84C11+,wcp5+,D5S23-,wcp6+).The 9 mo patient was referred with delayed visual maturation, left ptosis, minor dysmorphic features, fish-like mouth and talipes.Aberration: ID,RT
- PubMedLinks to PubMed
- 05p1532 - Chromosomal Variation in Man05p1532 - Chromosomal Variation in Man
Your browsing activity is empty.
Activity recording is turned off.
See more...