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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- Garcia-Heras J, Kilani R A, Martin R A, Lamp S.: A deletion of proximal 20p inherited from a normal mosaic carrier mother in a newborn with panhypopituitarism and craniofacial dysmorphism. Clin. Dysmorphol. 14:137-140, 2005. [PubMed: 15930903]Mother=mos46,XX[15]/46,XX,del(20)(p11.1p12)-blood.,Patient=46,XY,der del(20)(p11.1p12)mat.The newborn, now 6 months old and developing normally, phenotype included panhypopituitarism, craniofacial dysmorphism, a small phallus with a semi bifid scrotum, and bilateral widely separated first and second toes.Aberration: Interstitial deletionChromosomal Aneuploidy: 20p-Index Terms: Panhypopituitarism
- Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic I F, Beensen V, Calussen U, Liehr T.: A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum. Genet. DOI=10.1007.s004390100459, 2001. [PubMed: 11354630]Prenatal case 10=47,XX,+mar[20].cenM-FISH+der(20)(p11.1->q11.1).Chromosomal Aneuploidy: 20p and q+Index Terms: cenM-FISH
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- 20p111 - Chromosomal Variation in Man20p111 - Chromosomal Variation in Man
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