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, David Weaver, C. G. Palmer

Research output: Contribution to journalArticle

53 Citations (Scopus)

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 - 1981
Externally publishedYes

Fingerprint

Goldenhar Syndrome
Plagiocephaly
Fibroblasts
Facial Asymmetry
Torticollis
Mosaicism
Patent Ductus Arteriosus
Inguinal Hernia
Cleft Lip
Histamine Antagonists
Thumb
Cleft Palate
First Pregnancy Trimester
Thoracic Aorta
Contraception
Karyotype
Tongue
Hair
Pulmonary Artery
Ear

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics

Cite this

Hodes, M. E., Gleiser, S., DeRosa, G. P., Yune, H. Y., Girod, D. A., Weaver, D., & Palmer, C. G. (1981). Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia. Journal of Craniofacial Genetics and Developmental Biology, 1(1), 49-55.

Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia. / Hodes, M. E.; Gleiser, S.; DeRosa, G. P.; Yune, H. Y.; Girod, D. A.; Weaver, David; Palmer, C. G.

In: Journal of Craniofacial Genetics and Developmental Biology, Vol. 1, No. 1, 1981, p. 49-55.

Research output: Contribution to journalArticle

Hodes, M. E. ; Gleiser, S. ; DeRosa, G. P. ; Yune, H. Y. ; Girod, D. A. ; Weaver, David ; Palmer, C. G. / Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia. In: Journal of Craniofacial Genetics and Developmental Biology. 1981 ; Vol. 1, No. 1. pp. 49-55.
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