Article
Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)].
American journal of medical genetics - 22 Jul 2001
Zannolli R, Mostardini R, Pucci L, Sorrentino L, Biagioli M, Perotti R, Guarna M, Hadjistilianou T, Zerega G, Pierluigi M, Franco B, D'Ambrosio A, Morgese G
Abstract excerpt
We report on a 2-year-old girl with a de novo mutation [45,XX,der(5),t(5;14) (pter;q11.2)] with corpus callosum agenesis, multiple cysts (cerebral and cardiac), subtle eye abnormalities, and at least two different skin defects, strongly indicating neuroectodermal involvement, as a neuromuscular choristoma (hamartoma) and an eccrine hamartoma. Fluorescent in situ hybridization with different single-locus probes...
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