De novo (15;21) unbalanced translocation of paternal origin in a girl with prader-willi syndrome
β 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.
π SIMILAR VOLUMES
We report a de novo dup(X)(q23βq26) 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 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