Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13
β Scribed by Spinner, Nancy B. ;Zackai, Elaine ;Cheng, Sou-De ;Knoll, Joan H. M.
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 526 KB
- Volume
- 57
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
A balanced Robertsonian translocation 45,XY,t(15q15q) was detected in a patient with mental retardation, microcephaly, and hypertonia. Deletion of the 15qllq13 region was unlikely based on fluorescence in situ hybridization studies that revealed hybridization of appropriate DNA probes to both arms o
## Abstract We report on an individual with trimethylβaminuria, PraderβWilli syndrome, and del(15) (q11q13). To our knowledge, such an association has never been reported. Skin sores secondary to cholineβrich foods and amenable to dietary control have not been described in trimethylaminuria, althou