Congenital camptodactyly associated with the 48,XXYY syndrome

Genet Couns. 1998;9(1):19-21.

Abstract

A male premature infant presented with slow development and congenital camptodactyly of both hands. Chromosome analysis showed a 48,XXYY karyotype. As far as we know, this is the first report describing congenital camptodactyly associated with the 48,XXYY syndrome.

Publication types

  • Case Reports

MeSH terms

  • Congenital Abnormalities / diagnosis
  • Congenital Abnormalities / genetics
  • Contracture / genetics*
  • Fertilization in Vitro
  • Fingers / abnormalities*
  • Hand Deformities, Congenital / diagnosis
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Sex Chromosome Aberrations / genetics*
  • Triplets
  • X Chromosome*
  • Y Chromosome*