Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature

Am J Med Genet. 1995 Jan 16;55(2):147-54. doi: 10.1002/ajmg.1320550203.

Abstract

We report on two boys and a girl with interstitial deletion in the short arm of chromosome 4 including the segment p15.2p15.33. All had normal growth with psychomotor retardation, multiple minor congenital anomalies, and a characteristic face distinct from that of the Wolf-Hirschhorn syndrome. One of the patients had congenitally enlarged penis. These patients resemble some of the previously reported patients with similar cytogenetic abnormalities and suggests the recognition of a specific clinical chromosome deletion syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 4*
  • Face / abnormalities
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Syndrome