Mild "duplication 6q syndrome": a case with partial trisomy (6)(q23.3q25.3)

Am J Med Genet. 1997 Feb 11;68(4):450-4. doi: 10.1002/(sici)1096-8628(19970211)68:4<450::aid-ajmg15>;2-r.


We report on a female infant with partial 6q trisomy (46,XX,dir dup(6)(q23.3q25.3)) and phenotypic characteristics of the "duplication 6q syndrome," including intrauterine growth retardation, dolichocephaly, depressed nasal bridge, almond-shaped palpebral fissures, short neck, flexion-contractures of the wrists, and mild generalized hypertonia. Although clearly belonging to the described "duplication 6q syndrome," her features were milder than those found in the literature. Comparison of the phenotype of this child with other published reports indicates that specific phenotypic components of the duplication 6q syndrome cannot be attributed to duplication of a specific band or bands on 6q.

Publication types

  • Case Reports
  • Comparative Study
  • Review

MeSH terms

  • Adult
  • Bradycardia / genetics
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 6*
  • Face / abnormalities
  • Female
  • Fetal Growth Retardation / genetics
  • Heart Defects, Congenital / genetics
  • Humans
  • Hypertelorism / genetics
  • Infant
  • Infant, Newborn
  • Male
  • Neck / abnormalities
  • Pregnancy
  • Trisomy
  • Wrist / abnormalities