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Robertsonian (15q;15q) translocation in a child with Angelman syndrome: Evidence of uniparental disomy

✍ Scribed by Tonk, Vijay; Schultz, Roger A.; Christian, Susan L.; Kubota, Takeo; Ledbetter, David H.; Wilson, Golder N.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 306 KB
Volume: 66
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19961230)66:4<426::aid-ajmg7>3.0.co;2-i

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✦ Synopsis

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 of the Robertsonian chromosome. Inheritance of alleles from 13 highly polymorphic DNA markers on chromosome 15 showed paternal uniparental isodisomy. The clinical, cytogenetic, and molecular results are consistent with a diagnosis of Angelman syndrome.

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