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
Another case of maternal uniparental disomy chromosome 14 syndrome
โ Scribed by Splitt, Miranda Penman; Goodship, Judith A.
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 13 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19971017)72:2<239::aid-ajmg21>3.0.co;2-n
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