A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome

J Hum Genet. 2004;49(8):440-444. doi: 10.1007/s10038-004-0166-z. Epub 2004 Jul 16.


Patients with 9q34.3 terminal deletion usually show a clinically recognizable phenotype characterized by specific facial features (microcephaly, flat face, arched eyebrows, hypertelorism, short nose, anteverted nostrils, carp mouth and protruding tongue) in combination with severe mental retardation, hypotonia, and other anomalies. We analyzed six unrelated patients with a various 9q34.3 terminal deletion. While having different-sized 9q34.3 deletions, all of these patients shared several distinctive anomalies. These anomalies are likely to arise from a commonly deleted region at distal 9q34.3. Fluorescence in situ hybridization (FISH) analysis using a dozen BAC clones mapped at the 9q34.13-q34.3 region defined the shortest region of deletion overlap (SRO) as a 1-Mb segment proximal to 9qter containing eight known genes. Possible candidate genes delineating specific phenotypes of the 9q34.3 terminal deletion syndrome are discussed.

MeSH terms

  • Centromere / genetics
  • Chromosome Deletion*
  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / genetics*
  • Chromosomes, Artificial, Bacterial / genetics
  • Chromosomes, Human, Pair 9 / genetics*
  • Female
  • Haplotypes
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Syndrome
  • Telomere / genetics