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A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies
Author(s) -
Zahir Farah R.,
Langlois Sylvie,
Gall Kim,
Eydoux Patrice,
Marra Marco A.,
Friedman Jan M.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32827
Subject(s) - gene duplication , microcephaly , biology , comparative genomic hybridization , genetics , chromosome , gene , genome , phenotype , segmental duplication , gene family
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. © 2009 Wiley‐Liss, Inc.