Wolf-Hirschhorn syndrome and Pitt-Rogers
β Battaglia, Agatino; Carey, John C.
π Article
π
1998
π John Wiley and Sons
π English
β 2 KB
π 1 views
β¦ LIBER β¦
Wolf-Hirschhorn syndrome and a split-hand malformation
β Scribed by Bamshad, Michael; O'Quinn, Janis R.; Carey, John C.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 15 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980203)75:4<351::aid-ajmg3>3.0.co;2-t
No coin nor oath required. For personal study only.
β¦ Synopsis
Ectrodactyly has not previously been reported in children with Wolf-Hirschhorn syndrome (WHS). Based on this premise and the identification of an unbalanced translocation between chromosomes 4p15 and 10q25 in a fetus with ectrodactyly and hemimelia, a second locus for dominantly inherited split hand/foot malformation (SHFM3) was mapped to chromosome 10q24-q25. We present the clinical findings of an infant with WHS and SHFM and suggest that the presence of additional loci on 4p which modify/cause SHFM cannot be excluded.
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Wolf-Hirschhorn syndrome (WHS) is a well-known malformation syndrome due to microdeletion of the short arm of chromosome 4 (4pβ«.)Χβ¬ Almost 120 cases have been reported so far, yet there is still limited information on its natural history. It is generally thought that these children have severe devel
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