Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23

Am J Med Genet A. 2006 Feb 15;140(4):373-7. doi: 10.1002/ajmg.a.31094.

Abstract

A 2-year-old boy with clinical manifestations of monosomy 9p syndrome and brown hair is described. G-banding and chromosome FISH studies demonstrated complex rearrangements involving seven breakpoints in chromosomes 2 and 9, which included a 6.6-Mb deletion at 9p22.2-p23. This, together with previous studies in the literature, narrowed the shortest region of overlap (SRO) for the syndrome to a 4.7-Mb interval. Candidate genes for trigonocephaly, mental retardation, and brown hair are discussed.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child, Preschool
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 2 / genetics
  • Chromosomes, Human, Pair 9 / genetics*
  • Female
  • Gene Rearrangement
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics
  • Male
  • Monosomy*
  • Syndrome