Trisomy 9 mosaicism with multiple congenital anomalies

R. H.A. Haslam, S. P. Broske, C. M. Moore, G. H. Thomas, C. A. Neill

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Abstract

A nine year old male with developmental abnormalities was found to be mosaic for an extra No. 9 chromosome (46,XY/47,XY,+q). The clinical findings included severe mental retardation, peculiar facies, short stature, hypotonia, dextroposition with a ventricular septal defect, and patent ductus arteriosus, as well as significant abnormalities of the brain.

Original languageEnglish (US)
Pages (from-to)180-184
Number of pages5
JournalJournal of Medical Genetics
Volume10
Issue number2
Publication statusPublished - Dec 1 1973

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Haslam, R. H. A., Broske, S. P., Moore, C. M., Thomas, G. H., & Neill, C. A. (1973). Trisomy 9 mosaicism with multiple congenital anomalies. Journal of Medical Genetics, 10(2), 180-184.