Monozygotic twins discordant for neurofibromatosis 1
β Scribed by Lee Kaplan; Rosemary Foster; Yiping Shen; Dilys M. Parry; Mary L. McMaster; Melanie Collins O'Leary; James F. Gusella
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 169 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
We report on monozygotic (MZ) twins, one with the fibular aplasia developmental field defect, and the other with ectrosyndactyly of the hand. This may represent a coincidental occurrence of two sporadic events, or syndro-ma1 fibular aplasia.
## Abstract Monochorionic twins were phenotypically discordant for Down syndrome. Chromosome analysis of lymphocytes showed both to be mosaics. Fibroblast chromosome analysis showed that one twin was 46,XY and the other 47,XY, +21. Blood mosaicism appears to have resulted from placental anastomoses
## Abstract Spondylocostal dysostosis (SCD) is a rare skeletal dysplasia with clinical and radiological manifestations, consisting of short neck and trunk, barrelβshaped chest, protuberant abdomen, scoliosis and abnormalities of vertebral segmentation and of the ribs. Both autosomal recessive and a