Distinct phenotype in maternal uniparental disomy of chromosome 14
β Scribed by Healey, Sue ;Powell, Fiona ;Battersby, Miriam ;Chenevix-Trench, Georgia ;McGill, James
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 280 KB
- Volume
- 51
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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
The recent demonstration of genomic imprinting of DLK1 and MEG3 on human chromosome 14q32 indicates that these genes might contribute to the discordant phenotypes associated with uniparental disomy (UPD) of chromosome 14. Regulation of imprinted expression of DLK1 and MEG3 involves a differentially