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
β¦ LIBER β¦
45X/46X,r(X) with syndactyly and severe mental retardation
β Scribed by Kushnick, Theodore ;Irons, Thomas G. ;Wiley, John E. ;Gettig, Elizabeth A. ;Rao, Kathleen W. ;Bowyer, Susan ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1987
- Tongue
- English
- Weight
- 475 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0148-7299
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