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De novo 7q36 deletion: Breakpoint analysis and types of holoprosencephaly

✍ Scribed by Frints, Suzanna G.M.; Schoenmakers, Eric F.P.M.; Smeets, Eric; Petit, Paul; Fryns, Jean-Pierre

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 45 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980113)75:2<153::aid-ajmg6>3.0.co;2-u

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✦ Synopsis

We report on a de novo 7q36 deletion in a 3-month-old girl with manifestations of the 7q terminal deletion syndrome. Only minimal findings of holoprosencephaly (HPE) were present since only a partial corpus callosum hypoplasia was seen on a magnetic resonance imaging scan of the brain. Extensive fluorescence in situ hybridization analysis showed that the HPE3 critical gene region, inclusive Sonic hedgehog (SHH), En2 (HOX1), and HTR5A, was deleted. A review of 33 other patients with a de novo terminal 7q deletion and the different types of HPE manifestations within these patients will be presented.

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