Clinical Comparison of Overlapping Deletions of 19p13.3

Hiba Risheg, Romela Pasion, Stephanie Sacharow, Virginia Proud, Ladonna Immken, Stuart Schwartz, Jim H. Tepperberg, Peter Papenhausen, Tiong Y. Tan, Joris Andrieux, Ghislaine Plessis, David J. Amor, Elisabeth A. Keitges

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

We present three patients with overlapping interstitial deletions of 19p13.3 identified by high resolution SNP microarray analysis. All three had a similar phenotype characterized by intellectual disability or developmental delay, structural heart abnormalities, large head relative to height and weight or macrocephaly, and minor facial anomalies. Deletion sizes ranged from 792Kb to 1.0Mb and included a common region arr [hg19] 19p13.3 (3,814,392-4,136,989), containing eight genes: ZFR2, ATCAY, NMRK2, DAPK3, EEF2, PIAS4, ZBTB7A, MAP2K2, and two non-coding RNA's MIR637 and SNORDU37. The patient phenotypes were compared with three previous single patient reports with similar interstitial 19p13.3 deletions and six additional patients from the DECIPHER and ISCA databases to determine if a common haploinsufficient phenotype for the region can be established.

Original languageEnglish
Pages (from-to)1110-1116
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number5
DOIs
StatePublished - May 1 2013
Externally publishedYes

Keywords

  • 19p13.3 deletions
  • Copy number variants
  • SNP microarray

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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