Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review

Clin Dysmorphol. 2007 Oct;16(4):279-82. doi: 10.1097/MCD.0b013e3282630818.

Abstract

We present a 4-year-old boy with developmental delay and several into minor dysmorphic features due to an interstitial deletion of 17.5 Mb on the long arm of chromosome 13 [46,XY,del (13)(q14.3q21.33)]. The deletion was detected initially during routine cytogenetic screening and further analyzed on a genome-wide BAC array. In contrast to several previous papers reporting a short stature, our patient was tall with a 1 year advanced skeletal age. In this paper, we compare growth and clinical features of this patient with previously reported cases, with a similar interstitial deletion on the long arm of chromosome 13.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Body Height*
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13 / genetics*
  • Face / abnormalities*
  • Humans
  • Infant
  • Male