Interstitial deletion of chromosome 2q associated with ovarian dysgenesis

E. Davis, M. Grafe, Christopher M Cunniff, L. K. Jones, M. Bogart

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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
Publication statusPublished - 1991
Externally publishedYes

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Keywords

  • Deletion 2q
  • Ovarian dysgenesis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Davis, E., Grafe, M., Cunniff, C. M., Jones, L. K., & Bogart, M. (1991). Interstitial deletion of chromosome 2q associated with ovarian dysgenesis. Clinical Genetics, 39(5), 386-390.