𝔖 Bobbio Scriptorium
✦   LIBER   ✦

De novo (15;21) unbalanced translocation of paternal origin in a girl with prader-willi syndrome

✍ Scribed by Cuoco, C. ;Bicocchi, M. P. ;Granata, D. ;Mezzano, P. ;Serra, G.


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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


β€œDe novo” duplication Xq23β†’Xq26 of pater
✍ Garcia-Heras, Jaime ;Martin, Judith A. ;Day, Donald W. ;Scacheri, Peter ;Witchel πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 466 KB πŸ‘ 2 views

We report a de novo dup(X)(q23β†’q26) in a 3-year-old girl with growth retardation, developmental delay, and minor anomalies. Xinactivation in lymphocytes by BRDU labeling showed the abnormal X was late replicating. The androgen receptor assay (HAR) demonstrated a skewed methylation (88.8%) of the pat

Maternal disomy and Prader-Willi syndrom
✍ Park, Jonathan P.; Moeschler, John B.; Hani, Valerie H.; Hawk, Arnold B.; Bellon πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 28 KB πŸ‘ 2 views

Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal m