[Severe mental retardation and slight dysmorphism in a child with a bisatellite extrachromosome: inversion duplication (15)?]

Pediatr Med Chir. 1982 Sep-Oct;4(5):559-61.
[Article in Italian]

Abstract

A de novo tetrasomy 15 has been reported, in a 6 years old child. The patient had severe mental retardation an minimal physical stigmata, consisting in slight skeletal and facial dismorphism. Cytogenetic analysis showed that extrachromosome, G-like long, was bisatellited and dicentric and was interpreted either as an inversion duplication 15 or as 15; G or D translocation.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosome Inversion*
  • Chromosomes, Human, 13-15*
  • Diploidy*
  • Electrocardiography
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Pedigree