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- Publisher
- Wiley
- Copyright
- Copyright © 1992 Wiley Subscription Services, Inc., A Wiley Company
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- DOI
- 10.1002/ajmg.1320430162
- Publisher site
- See Article on Publisher Site
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.
Journal
American Journal of Medical Genetics Part A – Wiley
Published: Mar 15, 1993
Keywords: ; ; ; ; ;