[Proximal 4p syndrome in a 7-year-old moderately retarded girl]

Monatsschr Kinderheilkd. 1993 Aug;141(8):655-8.
[Article in German]

Abstract

A 7 year old girl in whom an interstitial deletion of the short arm of a chromosome no. 4 had been discovered [46, XX, del(4)(p15.2p16)] is moderately retarded and exhibits some mild craniofacial dysmorphies. Cardiological examination revealed a PDA and an ASD. From seven similar cases published up to now a typical phenotype cannot be concluded. Dermatoglyphics show a remarkable frequency of digital arches but the diagnostic significance is questioned by this observation.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Child
  • Chromosome Aberrations
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 4*
  • Dermatoglyphics
  • Ductus Arteriosus, Patent / genetics
  • Female
  • Heart Septal Defects, Atrial / genetics
  • Humans
  • Intellectual Disability / genetics*
  • Neurologic Examination
  • Phenotype
  • Syndrome