Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions

Benjamin Kamien, M. Cristina Digilio, Antonio Novelli, Sheridan O'Donnell, Nicole Bain, Cliff Meldrum, Tracy Dudding-Byth, Rodney J. Scott, Himanshu Goel

Research output: Contribution to journalArticle

Abstract

Large chromosomal deletions from 13q13.3 to 13q21.3 have previously been associated with overgrowth. We present two patients with deletions at 13q14.2q14.3 who have macrocephaly, tall stature relative to their parents, cardiac phenotypes, and intellectual disability. This report narrows the critical region for tall stature, macrocephaly, and possibly cardiac disease. Crown

Original languageEnglish
Pages (from-to)629-633
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume58
Issue number11
DOIs
Publication statusPublished - 2015

Keywords

  • ALG11
  • Chromosomal microdeletion
  • Chromosome 13q14.2
  • Chromosome 13q14.3
  • CKAP2
  • DHRS12
  • DLEU7
  • INTS6
  • LECT1
  • Macrocephaly
  • OLFM4
  • Overgrowth
  • PCDH8
  • SUGT1
  • Tall stature
  • THSD1
  • UTP14C
  • VPS36

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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