Uniparental disomy for chromosome 16 has been previously identified in fetal deaths and newborn infants with limited follow-up. Thus there is a lack of information about the long-term effects of maternal uniparental disomy 16 on growth and development. We present a case of maternal heterodisomy for
✦ LIBER ✦
Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation
✍ Scribed by Marlène Rio; Catherine Ozilou; Valérie Cormier-Daire; Catherine Turleau; Marguerite Prieur; Michel Vekemans; Pierre Chauveau; Arnold Munnich; Laurence Colleaux
- Book ID
- 106137380
- Publisher
- Springer
- Year
- 2001
- Tongue
- English
- Weight
- 88 KB
- Volume
- 108
- Category
- Article
- ISSN
- 0340-6717
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