✦ LIBER ✦

The Wolf-Hirschhorn syndrome in adulthood: Evaluation of a 24-year-old man with a rec(4) chromosome

✍ Scribed by Ogle, Robert; Sillence, David O.; Merrick, Ann; Ell, Jonathan; Lo, Beehong; Robson, Lisa; Smith, Arabella

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 397 KB
Volume: 65
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19961016)65:2<124::aid-ajmg8>3.0.co;2-s

No coin nor oath required. For personal study only.

✦ Synopsis

We describe a profoundly intellectually disabled 24-year-old man with Wolf-Hirschhorn syndrome, left hemiplegia, epilepsy, atrophy of the right cerebral hemisphere, and dilatation of the right ventricle. The patient had a small ventricular septa1 defect, was wheelchair bound, and totally dependent. He had no speech, but vocalised to show his feelings. In this patient, the de1(4)(p15) was subtle and arose due to the inheritance of a recombinant chromosome (4) from a maternal pericentric inversion-46,XX,inv(4) (p15.32q35). Fluorescence in situ hybridisation with probe D4S96 confirmed the deletion. This is the second case of Wolf-Hirschhorn syndrome resulting from a large pericentric inversion of chromosome 4.

📜 SIMILAR VOLUMES

Familial translocation resulting in Wolf

Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: Clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome

✍ Wheeler, Patricia G ;Weaver, David D. ;Palmer, Catherine G. 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 435 KB 👁 2 views

Co-occurrence of 4p16.3 deletions with b

Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf–Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith–Wiedemann or Russell–Silver phenotype

✍ Sarah T. South; Heidi Whitby; Teresa Maxwell; Emily Aston; Arthur R. Brothman; J 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 183 KB 👁 1 views