Placentomegaly in Paternal Uniparental Disomy for Human Chromosome 14
โ Scribed by M. Kagami; K. Yamazawa; K. Matsubara; N. Matsuo; T. Ogata
- Book ID
- 113854328
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 93 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0143-4004
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๐ SIMILAR VOLUMES
Uniparental disomy (UPD) for several chromosomes has been associated with disease phenotypes. Maternal UPD for chromosome 14 has been described and has a characteristic abnormal phenotype. Paternal UPD14 is rare and only three previous cases have been reported. We describe a new case of paternal UPD
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
Mice inheriting both copies of MMU12 either maternally or paternally demonstrate imprinting effects. Whereas maternal uniparental disomy 12 (matUPD12) fetuses are growth retarded and die perinatally, paternal UPD12 (patUPD12) fetuses die during late gestation and exhibit placentomegaly and skeletal