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

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.

• Authors: V R Macias, D W Day, T E King, G N Wilson
• Journal: American journal of medical genetics (Am J Med Genet) 1992 Apr 15-May 1 Vol. 43 Issue 1-2 Pg. 408-14 ISSN: 0148-7299 [Print] United States
• PMID: 1605219 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA

Topics

• Adolescent
• Aphasia (genetics)
• Child
• DNA (genetics)
• Female
• Gait
• Genetic Linkage
• Humans
• Infant
• Intellectual Disability (genetics)
• Male
• Pedigree
• Syndrome
• Thumb (abnormalities)
• X Chromosome