Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22-p12.31

J Hum Genet. 2015 Apr;60(4):183-5. doi: 10.1038/jhg.2015.4. Epub 2015 Feb 5.

Abstract

Interstitial deletion of the proximal short arm of chromosome 10 represents a rare genetic alteration. Literature review revealed that only 10 postnatal diagnosed clinical cases with deletions overlapping 10p12p11 were published until present. We report the first prenatal diagnosis and postnatal findings in a male fetus with a 10.6 Mb interstitial deletion of the short arm of chromosome 10 (10p11.22-p12.31).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 10*
  • Comparative Genomic Hybridization
  • Female
  • Genome-Wide Association Study
  • Humans
  • Infant, Newborn
  • Male
  • Phenotype
  • Pregnancy
  • Prenatal Diagnosis*
  • Ultrasonography, Prenatal