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

Research output: Contribution to journalArticle

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

Fingerprint

Chromosome Duplication
Nucleic Acid Hybridization
Microcephaly
Chromosomes, Human, Pair 17
Scoliosis
Deafness
Base Pairing
Ear
Genome
Phenotype
Genes
Cognitive Dysfunction

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies. / Zahir, Farah R.; Langlois, Sylvie; Gall, Kim; Eydoux, Patrice; Marra, Marco A.; Friedman, Jan M.

In: American Journal of Medical Genetics, Part A, Vol. 149, No. 6, 06.2009, p. 1257-1262.

Research output: Contribution to journalArticle

Zahir, Farah R. ; Langlois, Sylvie ; Gall, Kim ; Eydoux, Patrice ; Marra, Marco A. ; Friedman, Jan M. / A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies. In: American Journal of Medical Genetics, Part A. 2009 ; Vol. 149, No. 6. pp. 1257-1262.
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