Maternal uniparental disomy of chromosome 21 in a normal child
โ Scribed by Rogan, Peter K.; Sabol, Darrin W.; Punnett, Hope H.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 12 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990305)83:1<69::aid-ajmg14>3.0.co;2-q
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โฆ Synopsis
Maternal uniparental disomy of chromosome 21 [upd(21)mat] was found previously in a normal female and in 2 cases of early embryonic failure. We present a phenotypically normal child with upd(21)mat due to a de novo der(21;21)(q10;10). This finding suggests that chromosome 21 is not imprinted in the maternal germline. Am.
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