Duplication of 9q12-q33: a case report and implications for the dup(9q) syndrome

Am J Med Genet. 1993 Feb 15;45(4):456-9. doi: 10.1002/ajmg.1320450412.

Abstract

We report on a boy with a direct tandem duplication of 9(q12-q33) and dolichocephaly, beaked nose with prominent philtrum, deep-set eyes, receding small chin, failure to thrive, developmental delay, simian creases, long fingers, stiff joints, and hypoplastic scrotum. This patient is compared to the 5 other reported cases with pure partial dup(9q), and the "trisomy 9q syndrome" described by Turleau et al. [1975].

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, Pair 9*
  • Failure to Thrive
  • Hand Deformities, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Multigene Family*
  • Nose / abnormalities
  • Scrotum / abnormalities
  • Syndrome
  • Trisomy