𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Distinct phenotype in maternal uniparental disomy of chromosome 14

✍ 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.


πŸ“œ SIMILAR VOLUMES


Maternal uniparental disomy of chromosom
✍ Rogan, Peter K.; Sabol, Darrin W.; Punnett, Hope H. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 12 KB πŸ‘ 2 views

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

Epigenetic detection of human chromosome
✍ S.K. Murphy; A.A. Wylie; K.J. Coveler; P.D. Cotter; P.R. Papenhausen; V.R. Sutto πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 221 KB

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