The characteristic phenotype of distal 9q3 trisomy is due to duplication of band 9q32

Genet Couns. 1993;4(3):217-21.

Abstract

In this report we describe a 6-month-old female child with inverted duplication of bands 9q32-9q33. The phenotypic findings are identical to the clinical syndrome previously reported to be associated with 9q31-9q32 duplication. The findings in the present child indicate that the minimal segment of overlap in this partial trisomy syndrome is 9q32.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosome Disorders*
  • Chromosome Inversion
  • Chromosomes, Human, Pair 9*
  • Cleft Palate / genetics
  • Face / abnormalities
  • Female
  • Humans
  • Infant
  • Microcephaly / genetics*
  • Phenotype
  • Syndrome
  • Trisomy*