Interstitial deletion of chromosome 2q associated with ovarian dysgenesis

Everett Davis, M. Grafe, Christopher Cunniff, Kenneth Lyons Jones, Mark Bogart

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

In the present report we describe a girl with mental retardation, Dandy‐Walker malformation, craniofacial anomalies, cardiac defect, and ovarian dysgenesis associated with an interstitial deletion of chromosome 2. The interstitial deletion in the proband was associated with an apparently balanced translocation involving chromosomes 2 and 7 in the father.

Original languageEnglish (US)
Pages (from-to)386-390
Number of pages5
JournalClinical Genetics
Volume39
Issue number5
DOIs
StatePublished - May 1991

Keywords

  • deletion 2q
  • ovarian dysgenesis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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