Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence

Am J Med Genet. 1994 Jan 1;49(1):67-73. doi: 10.1002/ajmg.1320490112.

Abstract

Duplications of chromosome 9q are rare. We describe the cytogenetic and phenotypic findings in 2 patients, one with a large duplication covering most of 9q(q12-q33.2) and one with a smaller duplication (q21.12-q22.1) who had Di George sequence (DGS). The chromosome 9 origin of the extra material in the second case was confirmed by fluorescence in situ hybridization (FISH) analysis with a whole chromosome 9 paint. Microdeletions of chromosome 22 are common in DGS and have been reported in CHARGE association. This is the first report of an association of a chromosome 9 abnormality with DGS in the absence of a chromosome 22 abnormality and the seventh report of a patient with a duplication of a large portion of 9q (q11-q13 to q32-q33).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Brain / abnormalities*
  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / pathology
  • Chromosome Disorders
  • Chromosomes, Human, Pair 9 / ultrastructure*
  • Congenital Hypothyroidism
  • DiGeorge Syndrome / genetics*
  • Face / abnormalities*
  • Fatal Outcome
  • Female
  • Heart Defects, Congenital / genetics*
  • Humans
  • Hypothyroidism / genetics
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Karyotyping
  • Multigene Family*
  • Optic Disk / abnormalities
  • Palate / abnormalities