Partial trisomy 11q in a female infant with Robin sequence and congenital heart disease

R. Wallerstein, F. Desposito, H. Aviv, M. Schenk, D. F. Wallerstein, M. W. Steele

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

We describe the clinical and cytogenetic findings in a female infant with partial trisomy 11q, Robin sequence, cardiac anomalies, and other minor malformations. We compare the phenotypic similarities of our case to a series by Pihko et al. (1981), who reported on 20 cases with partial trisomy 11q with similar associated craniofacial and cardiac defects. We conclude that genetic etiologies for patients diagnosed with the Robin sequence may be more common than previously believed and that initial karyotyping should be performed to aid both diagnosis and clinical management. In addition, the pattern of Robin sequence and cardiac defects may be specifically suggestive of partial trisomy 11q.

Original languageEnglish (US)
Pages (from-to)77-79
Number of pages3
JournalCleft Palate-Craniofacial Journal
Volume29
Issue number1
DOIs
StatePublished - 1992

All Science Journal Classification (ASJC) codes

  • Oral Surgery
  • Otorhinolaryngology

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