Yq- in a child with livedo reticularis, snub nose, microcephaly, and profound mental retardation. Issue 5 (October 1982)

• Record Type: Journal Article
• Authors: Podruch, P E; Yen, F S; Dinno, N D; Weisskopf, B
• Is Part Of: Journal of medical genetics. Volume 19:Issue 5(1982)
• Page Start: 377
• Page End: 380
• Publication Date: 1982-10
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.19.5.377
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A child with terminal deletion of the long arm of the Y chromosome (Yq--) presented with marked livedo reticularis, snub nose, microcephaly, short stature, and other dysmorphic features. He was profoundly mentally retarded. Most of the patients with Yq- have been reported as having varying dysmorphic features, mental retardation, and short stature. This child, in addition to the above, has livedo reticularis and microcephaly. He was of normal birthweight and, therefore, does not come into the syndrome of microcephaly, snub nose, livedo reticularis, and low birthweight dwarfism. Further information on Yq- should be obtained to ascertain if consistent patterns of abnormalities exist.