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Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia

✍ Scribed by AM Slavotinek; A Moshrefi; N Lopez Jiminez; R Chao; A Mendell; GM Shaw; LA Pennacchio; MD Bates

Book ID: 110888794
Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 461 KB
Volume: 75
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2009.01182.x

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## Abstract Using an Affymetrix GeneChip® Human Mapping 100K Set to study a patient with a late‐presenting, right‐sided diaphragmatic hernia and microphthalmia, we found a maternally inherited deletion that was 2.7 Mb in size at chromosome 18q22.1. Mapping of this deletion using fluorescence in sit