Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia

M. E. Hodes, S. Gleiser, G. P. DeRosa, H. Y. Yune, D. A. Girod, D. D. Weaver, C. G. Palmer

Research output: Contribution to journalArticle

54 Scopus citations

Abstract

We describe a girl born to a mother who took birth control pills and antihistamines during the first trimester of pregnancy. Congenital abnormalities included plagiocephaly, abnormalities of left ear, facial asymmetry, abnormalities of head hair pattern, cleft lip and palate, bifid tongue, left torticollis, hemivertebrae, left radial hypoplasia and absent thumb, left inguinal hernia, patent ductus arteriosus, narrowing of the thoracic aorta, and hypoplastic right pulmonary artery. The karyotype obtained from peripheral lymphocytes and from fibroblasts from the left side of the body was 46XX whereas fibroblasts from the right side revealed 46XX/47XX+7 mosaicism.

Original languageEnglish (US)
Pages (from-to)49-55
Number of pages7
JournalJournal of Craniofacial Genetics and Developmental Biology
Volume1
Issue number1
StatePublished - Dec 1 1981
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics
  • Developmental Biology

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