We report on a girl with a trisomy 1q42Β±q44 due to an inverted duplication of this region, associated with a terminal deletion of the long arm of the rearranged chromosome 1. Both the large duplication (more than 30 cM) and the small deletion were detected by FISH. Complete karyotype was: (46,XX, in
β¦ LIBER β¦
Mother to son transmission of del(1) (q42.1q42.3)
β Scribed by Sanford Hanna, Julie A. ;Ball, Susie ;Pagon, Roberta A. ;Donlan, Michael
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 333 KB
- Volume
- 98
- Category
- Article
- ISSN
- 0148-7299
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