We report on a mother and daughter both with a 45,X/46,X,r(X)(p22. 3q28) karyotype and mental retardation. Fluorescence in situ hybridization (FISH) and microsatellite analyses for 14 loci/region at Xp22.3 and seven loci/region at Xq28 indicated that the ring X chromosome was missing a roughly 12-Mb
A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis
β Scribed by Young Bae Sohn; Su Jin Kim; Sung Won Park; Hyung-Doo Park; Chang-Seok Ki; Chi Hwa Kim; Seung Won Huh; Sunghee Yeau; Kyung-Hoon Paik; Dong-Kyu Jin
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 157 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
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