Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28.
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.
Macias
V R
VR
Genetic Screening and Counseling Service, Denton, TX.
Day
D W
DW
King
T E
TE
Wilson
G N
GN
D000293:Adolescent; D001037:Aphasia / Q000235:genetics; D002648:Child; D004247:DNA / Q000235:genetics; D005260:Female; D005684:Gait; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*; D014960:X Chromosome
D004247:DNA