Wolf–Hirschhorn syndrome
| Wolf–Hirschhorn syndrome | |
|---|---|
| Other names | Chromosome deletion Dillan 4p syndrome, Pitt–Rogers–Danks syndrome (PRDS), Pitt syndrome[1][2] |
| Young girl displaying characteristic facial features of Wolf–Hirschhorn syndrome | |
| Specialty | Medical genetics |
Wolf–Hirschhorn syndrome (WHS) is a chromosomal deletion syndrome resulting from a partial deletion on the short arm of chromosome 4 [del(4)(p16.3)].[3] Features include a distinct craniofacial phenotype and intellectual disability.
- ^ Online Mendelian Inheritance in Man (OMIM): Wolf-Hirschhorn syndrome - 194190
- ^ Rapini RP, Bolognia JL, Jorizzo JL (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 892, 894. ISBN 978-1-4160-2999-1.
- ^ Dufke A, Seidel J, Schöning M, Döbler-Neumann M, Kelbova C, Liehr T, Beensen V, Backsch C, Klein-Vogler U, Enders H (2000). "Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome". Cytogenetics and Cell Genetics. 91 (1–4): 81–4. doi:10.1159/000056823. PMID 11173835. S2CID 19641395.