𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Nonreciprocal and jumping translocations of 15q1→qter in Prader-Willi syndrome

✍ Scribed by Rivera, H. ;Zuffardi, O. ;Gargantini, L.

Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
678 KB
Volume
37
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Unbalanced reciprocal translocations in
Unbalanced reciprocal translocations in cases of Prader-Willi syndrome
✍ David P. Duckett; Selwyn H. Roberts; Patricia Davies 📂 Article 📅 1984 🏛 Springer 🌐 English ⚖ 863 KB

A case of Prader-Willi syndrome (PWS) associated with a de novo unbalanced 15q;17q reciprocal translocation presumptively resulting from the tertiary monosomic form of 3:1 meiotic disjunction is described. Twenty-three similar unbalanced translocations have been identified from the literature. The 2

Deletions of proximal 15q and non-classi
Deletions of proximal 15q and non-classical Prader-Willi syndrome phenotypes
✍ Schwartz, S. ;Max, S. R. ;Panny, S. R. ;Cohen, M. M. ;Optiz, John M. ;Reynolds, 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 537 KB

A deletion of the long arm of chromosome 15 (usually involving bands 15qll-q12) has been seen in approximately 50% of Prader-Willi syndrome (PWS) patients [Ledbetter et al, 19821. However, 14 patients with non-PWS (or atypical PWS) phenotype with 15q deletion indicate great clinical variability. A d

Trimethylaminuria in a girl with Prader-
Trimethylaminuria in a girl with Prader-Willi syndrome and del(15)(q11q13)
✍ Chen, Harold ;Aiello, Frank 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 848 KB

## Abstract We report on an individual with trimethyl‐aminuria, Prader‐Willi syndrome, and del(15) (q11q13). To our knowledge, such an association has never been reported. Skin sores secondary to choline‐rich foods and amenable to dietary control have not been described in trimethylaminuria, althou