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Article

A deletion of proximal 20p inherited from a normal mosaic carrier mother in a newborn with panhypopituitarism and craniofacial dysmorphism

1 Jun 2005

Abstract excerpt

We describe a newborn male with a constitutional deletion of proximal chromosome 20p involving band p11.2. The phenotype included panhypopituitarism, craniofacial dysmorphism, a small phallus with a semi bifid scrotum, and bilateral widely separated first and second toes. The deletion was inherited from his mother, a mosaic carrier of the same deletion in peripheral lymphocytes. The only other similar case with a...

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PMID: 15930903
DOI: 10.1097/00019605-200507000-00006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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