A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies

Farah R. Zahir, Sylvie Langlois, Kim Gall, Patrice Eydoux, Marco A. Marra, Jan M. Friedman

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10 Citations (Scopus)

Abstract

We report on a 14-year-old girl with mild cognitive impairment, deafness, and an unusual pattern of anomalies associated with a previously unreported de novo duplication of chromosome 17q21.33. The 1.1 Mb duplication was detected by Affymetrix 100K GeneChip® array genome hybridization and involves the genomic region between 45,093,544 and 46,196,038 base pairs on chromosome 17 (NCBI build 36.1). The patient has microcephaly, unusual cup-shaped ears, scoliosis and other skeletal defects. Two genes involved in the duplicated region, PPP1R9B and COL1A1, are strong candidates for producing her phenotype.

Original languageEnglish
Pages (from-to)1257-1262
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number6
DOIs
Publication statusPublished - Jun 2009
Externally publishedYes

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Keywords

  • 17q21.33
  • CNV
  • Cognitive impairment
  • COL1A1
  • Duplication
  • Mental retardation
  • PPP1R9B

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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