Proximal 7q interstitial deletion in a severely mentally retarded and mildly abnormal infant

P. J. Gillar, C. I. Kaye, S. G. Ryan, C. M. Moore

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

We describe a boy with an interstitial deletion of 7q [46,XY,del(7)(pter→q11.21::q11.23→qter)] and severe mental retardation, bilateral inguinal hernias, plagiocephaly, and mildly abnormal facial appearance. This is the 21st case report involving a proximal 7q deletion, but the first report of this specific deletion in the absence of Zellweger syndrome. Specific genotype-phenotype correlations are still not possible for this region of chromosome 7.

Original languageEnglish (US)
Pages (from-to)138-141
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume44
Issue number2
DOIs
StatePublished - Jan 1 1992

Keywords

  • 7
  • chromosome
  • human
  • interstitial deletion
  • mental retardation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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