Duplication 6q22-->qter: definition of the phenotype

Am J Med Genet. 1998 Jun 30;78(2):123-6. doi: 10.1002/(sici)1096-8628(19980630)78:2<123::aid-ajmg5>3.0.co;2-p.


We report on a girl with duplication of 6q22.32 --> qter and microcephaly, frontal bossing, facial anomalies, and webbed neck. She has congenital heart disease, renal hypoplasia, and hearing loss along with severe developmental delay. Published reports of seven other patients are reviewed and compared. The most frequent anomalies include microcephaly, abnormal face, webbed neck, congenital heart disease, limb contractures, and developmental delay.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, Pair 14*
  • Chromosomes, Human, Pair 6*
  • Female
  • Humans
  • Infant
  • Phenotype
  • Translocation, Genetic*