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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- Bonaglia M C, Marelli S, Novara F, Commodaro S, Borgatti R, Minardo G, Memo L, Mangold E, Beri S, Zucca C, Brambilla D, Molteni M, Giorda R, Weber R G, Zuffardi O.: Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. Europ. J. Hum. Genet. 18: 1302-1309, 2010. [PMC free article: PMC3002847] [PubMed: 20648052]Case 1=46,XY,del(19)(p13.12) 1.9 Mb, breakpoints at 14.119-14.135Mb and 16.053-16.071mB.,Case 2= 46,XX,del(19)(p13.12) 2.1 Mb, breakpoints at 13.965-13.933Mb and 16.053-16.118Mb.,Case 3=46,XY,del(19)(p13.12-p13.13) 1.5Mb, breakpoints at 12.870-12.878Mb and 14.154-14.166Mb.The patients share MR, psychomotor and language delay, hearing impairment, brachycephaly, anteverted nares and ear malformations. The 359-kb deleted region harbors LPHN1, DDX39, CD97, PKN1, PTGER1 and GIPC1 genes.Aberration: Interstitial deletionChromosomal Aneuploidy: 19p-
- 19p1312 - Chromosomal Variation in Man19p1312 - Chromosomal Variation in Man
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