A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation

Eur J Med Genet. 2008 Jan-Feb;51(1):74-80. doi: 10.1016/j.ejmg.2007.09.003. Epub 2007 Oct 2.

Abstract

We report on a young boy carrying a de novo 580 kb deletion in the 17q21.32 chromosomal band detected by array-CGH. He had multiple malformations including cardiac abnormalities, cleft palate, mental retardation, microcephaly, pronounced metopic suture and other minor facial dysmorphic features. This is the first case reported in the literature with such a small deletion in 17q21.32. This region includes 15 genes.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Base Sequence / genetics
  • Child
  • Chromosomes, Human, Pair 17 / genetics*
  • Cleft Palate / genetics*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Microcephaly / genetics*
  • Oligonucleotide Array Sequence Analysis
  • Sequence Deletion