Clasped‐thumb mental retardation (MASA) syndrome: Confirmation of linkage to Xq28
- 15 April 1992
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 43 (1-2) , 408-414
- https://doi.org/10.1002/ajmg.1320430162
Abstract
We describe a 5‐generation Hispanic family with 13 males and 1 female affected with MASA syndrome. The proposita, a 17‐year‐old female, and her affected male relatives shared many of the cognate manifestations–mental retardation (14/14), aphasia or delayed speech (13/13), shuffling gait (8/13), adduction of thumbs (14/14)–as well as scoliosis (2/13) and increased deep tendon reflexes in the lower extremities (10/13). Southern analysis with the polymorphic DNA probes DXS14 (Xp11), DXS72 (Xq21), and F8C (Xq28) confirmed linkage to the Xq28 region with a maximum lod score of 3.01 for this family.Keywords
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