DE-NOVO 7Q36 DELETION - BREAKPOINT ANALYSIS AND TYPES OF HOLOPROSENCEPHALY

We report on a de novo 7q36 deletion in a 3-month-old girl with manife stations of the 7q terminal deletion syndrome. Only minimal findings o f holoprosencephaly (HPE) were present since only a partial corpus cal losum hypoplasia was seen on a magnetic resonance imaging scan of the brain. Extensive fluorescence in situ hybridization analysis showed th at the HPE3 critical gene region, inclusive Sonic hedgehog (SHH), En2 (HOX1), and HTR5A, was deleted. A review of 33 other patients with a d e novo terminal 7q deletion and the different types of HPE manifestati ons within these patients will be presented. (C) 1998 Wiley-Liss, Inc.