A de novo proximal 6q deletion confirmed by array comparative genomic hybridization

Korean J Lab Med. 2010 Feb;30(1):84-8. doi: 10.3343/kjlm.2010.30.1.84.

Abstract

Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital hip dislocation, porencephaly, and brain atrophy. Array comparative genomic hybridization analysis showed arr 6q13q16.2(73,378,824?99,824,130), demonstrating higher resolution than the conventional cytogenetic findings, del(6)(q12q15). The clinical data were analyzed and compared with those of similar patients previously reported in the literature.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 6*
  • Comparative Genomic Hybridization / methods*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Oligonucleotide Array Sequence Analysis