## Abstract Angelman and PraderβWilli syndromes are clinically distinct neurobehavioral disorders most commonly resulting from large deletions of chromosome 15q11βq13. The deletions arise differentially during maternal or paternal gametogenesis, respectively. A subgroup of patients with either synd
Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome
β Scribed by Freeman, S. B. ;May, K. M. ;Pettay, D. ;Fernhoff, P. M. ;Hassold, T. J.
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 854 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0148-7299
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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 The Angelman syndrome (AS) is a neurological disorder characterized by severe mental retardation, absent speech, seizures, gait disturbances, and a typical ageβdependent facial phenotype. Most cases are due to an interstitial deletion on the maternally inherited chromosome 15, in the cr