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

Am J Med Genet. 1992 Sep 15;44(2):138-41. doi: 10.1002/ajmg.1320440204.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 7*
  • Face / abnormalities
  • Hernia, Inguinal / genetics
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Male