Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features. Issue 2 (20th April 2016)

• Record Type: Journal Article
• Authors: Katz, Olivia L.; Krantz, Ian D.; Noon, Sarah E.
• Other Names: Noon Sarah E. guestEditor.; Deardorff Matthew A. guestEditor.; Krantz Ian D. guestEditor.
• Is Part Of: American journal of medical genetics. Volume 172:Issue 2(2016)
• Page Start: 92
• Page End: 101
• Publication Date: 2016-04-20
• Subjects: interstitial 7q deletion -- intermediate 7q deletion -- 7q22.1q31.1 -- structural brain abnormality -- cardiac defect -- developmental delay -- dysmorphic features; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31485
• Languages: English
• ISSNs: 1552-4868

Abstract

Abstract : This report describes a male child with a history of poor feeding and swallowing problems, hypotonia, mild bilateral sensorineural hearing loss, cerebral cortical agenesis, cardiac defects, cyanotic episodes triggered by specific movement, dysmorphic features, and developmental delays. Analysis by CytoScan HD array identified a 12.1 Mb interstitial deletion of 7q22.1q31.1 (98, 779, 628–110, 868, 171). We present a comprehensive review of the literature surrounding intermediate 7q deletions that overlap with this child's deletion, and an analysis of candidate genes in the deleted region. © 2016 Wiley Periodicals, Inc.