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Clasped-thumb mental retardation (MASA) syndrome: Confirmation of linkage to Xq28

✍ Scribed by Macias, Vincent R. ;Day, Donald W. ;King, Teresa E. ;Wilson, Golder N.

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 487 KB
Volume: 43
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320430162

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✦ Synopsis

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 (Xpll), DXS72 (Xq21), and F8C (Xq28) confirmed linkage to the Xq28 region with a maximum lod score of 3.01 for this family.

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