We describe a family with direct transmission of a duplication of 8p12-->8p21.1. The phenotype of affected relatives included mild mental retardation but no minor anomalies. The duplication was identified by means of GTG-banding and fluorescence in situ hybridization with a probe specific for 8p12 g
Familial partial duplication (1)(p21p31)
β Scribed by Hoechstetter, Leah ;Soukup, Shirley ;Schorry, Elizabeth K.
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 359 KB
- Volume
- 59
- Category
- Article
- ISSN
- 0148-7299
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