Duplication 6q21q23 in two unrelated patients

Am J Med Genet. 1998 Nov 2;80(2):112-4. doi: 10.1002/(sici)1096-8628(19981102)80:2<112::aid-ajmg4>3.0.co;2-u.

Abstract

We report on two patients with rare 6q duplications. The karyotype of patient 1 is 46,XY,dup(6)(q21q23.3). The karyotype of patient 2 is 46,XX,dup(6)(q21.15q23.3). These two patients have some nonspecific physical findings in common including a depressed nasal bridge, epicanthal folds, mild heart defects, and developmental delay, but each had other congenital anomalies.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Aberrations*
  • Chromosome Disorders*
  • Chromosomes, Human, Pair 6*
  • Developmental Disabilities / genetics
  • Eyelids / abnormalities
  • Female
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Karyotyping
  • Nose / abnormalities