期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 140A, 期 8, 页码 873-877出版社
WILEY-LISS
DOI: 10.1002/ajmg.a.31163
关键词
8p; interstitial deletion; array-CGH
We report on a girl with delayed mental and motor development, ophthalmological abnormalities, and peripheral neuropathy. Chromosome analysis suggested a deletion within chromosome 8p. Further investigation by array-based comparative genomic hybridization (array-CGH) delineated an 8 Mb interstitial deletion on the short arm of chromosome 8. The breakpoints are located at chromosome bands 8p12 and 8p21.2. Forty-two known genes including gonadotropin-releasing hormone I (GNRH1), transcription factor EBF2, exostosin-like 3 (EXTL3) glutathione reductase (GSR), and neuregulin I (NRG1), are located within the deleted region on chromosome 8p. A comparison Of our patient with the cases described in the literature is presented, and we discuss the genotype-phenotype correlation in our patient. This is the first report of array-CGH analysis of an interstitial deletion at chromosome 8p. (c) 2006 Wiley-Liss, Inc.
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