Adrenoleukodystrophy: Overlapping Deletions Point to a Gene Location in Xq28
โ Scribed by G.H. Sack; J.C. Morrell
- Book ID
- 115572695
- Publisher
- Elsevier Science
- Year
- 1993
- Tongue
- English
- Weight
- 308 KB
- Volume
- 191
- Category
- Article
- ISSN
- 0006-291X
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
W e report on a family in which nonsyndromal mild to moderate mental retardation segregates as an X-linked trait (MRX41). T w o point linkage analysis demonstrated linkage between the disorder and marker DXS3 in Xq21.33 with a lod score of 2.56 at 0 = 0.0 and marker DXSllO8 in Xq28 with a lod score
A male patient carrying an interstitial deletion in Xp22.3 and affected by Kallmann syndrome, X-linked ichthyosis and mental retardation, but without chondrodysplasia punctata or short stature, was investigated with molecular probes from the distal Xp22.3 region. By means of a novel probe, M115, fro