Duplication 3p syndrome: Report of a new case and review of the literature

Joel Charrow, M. M. Cohen, D. Meeker

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

A review of the 17 previously reported cases of duplication 3p and study of a new patient who has a duplication of the chromosome segment 3p21→pter show a remarkably consistent phenotype among these patients and suggest some generalizations about prognosis. The manifestations include low birth weight, short stature, microcephaly, characteristic 'square' face with temporal indentations, hypertelorism and/or telecanthus, epicanthus with a broad nasal bridge and large nasal tip, and down-turned corners of the mouth. Cleft lip/palate and eversion of the lips are common. The jaw is typically small and receding and the neck short. Congenital heart disease, gastrointestinal malformations, abnormalities on intravenous urography, and defective masculinization of the male infants are frequently observed. A predominance of whorls is present on the fingers. Nearly half of the cases died before 6 months. All affected children surviving beyond 1 year have been mentally retarded.

Original languageEnglish (US)
Pages (from-to)431-436
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume8
Issue number4
DOIs
StatePublished - Jan 1 1981

ASJC Scopus subject areas

  • Genetics(clinical)

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