Pathologic findings in the Wolf-Hirschhorn (4p-) syndrome
✍ Scribed by Gonzalez, Claudette H. ;Capelozzi, Vera L. ;Wajntal, Anita ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1981
- Tongue
- English
- Weight
- 272 KB
- Volume
- 9
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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.
📜 SIMILAR VOLUMES
## 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
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