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Wolf–Hirschhorn syndrome and the 4p-related syndromes

✍ Scribed by Agatino Battaglia; John C. Carey


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
47 KB
Volume
148C
Category
Article
ISSN
1552-4868

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## Abstract We describe a 1‐month‐old female with the Wolf‐Hirschhorn syndrome. GTG‐banding studies disclosed a 46,XX,del(4)(:p15 → qter) in the child and apparently normal chromosomes in the parents. Autopsy at 4 months showed hypoplasia of most organs.

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## Abstract We report on molecular studies in 7 patients with Wolf‐Hirschhorn syndrome (WHC) not showing an obvious chromosome 4p deletion. Analysis of a set of polymorphic probes mapping in the 4p16.3 region showed the absence of paternal haplotypes in 5 cases, and maternal haplotypes in 2. These

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Wolf-Hirschhorn syndrome (WHS), a multiple congenital malformation syndrome, and Pitt-Rogers-Danks syndrome (PRDS), a rare condition with similar anomalies, were previously thought to be clinically distinct conditions. While WHS has long been associated with deletions near the terminus of 4p, severa