De novo direct duplication 3 (p25-->pter): a previously undescribed chromosomal aberration

Clin Genet. 1996 Aug;50(2):96-8. doi: 10.1111/j.1399-0004.1996.tb02356.x.

Abstract

We report on a case of de novo direct duplication for the distal part of chromosome 3p: 46,XY,dir dup (3) (p25-->pter). At the age of 4 years and 7 months, the boy presented with moderate growth and mental retardation, muscular hypotonia, hypoplasia of the left kidney, a short neck, and a square-shaped face characterized by a broad and flat nasal bridge, slight epicanthus, and full cheeks. So far, only a few cases with such a small distal 3p duplication have been described, and none of them has a de novo direct duplication for this region. In our patient, dysmorphic signs are less impressive, and developmental delay is relatively moderate.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / pathology
  • Chromosome Disorders
  • Chromosomes, Human, Pair 3 / genetics
  • Chromosomes, Human, Pair 3 / ultrastructure*
  • Face / abnormalities
  • Humans
  • Intellectual Disability / genetics*
  • Kidney / abnormalities
  • Male
  • Multigene Family*
  • Muscle Hypotonia / genetics
  • Phenotype
  • Trisomy