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

Macias, V R; Day, D W; King, T E; Wilson, G N

Macias, V R; Day, D W; King, T E; Wilson, G N.

Afiliación

Macias VR; Genetic Screening and Counseling Service, Denton, TX.

Am J Med Genet ; 43(1-2): 408-14, 1992.

Article en En | MEDLINE | ID: mdl-1605219

RESUMEN

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.

Asunto(s)

Discapacidad Intelectual/genética; Pulgar/anomalías; Cromosoma X; Adolescente; Afasia/genética; Niño; ADN/genética; Femenino; Marcha; Ligamiento Genético; Humanos; Lactante; Masculino; Linaje; Síndrome

Buscar en Google

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pulgar / Cromosoma X / Discapacidad Intelectual Límite: Adolescent / Child / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet Año: 1992 Tipo del documento: Article Pais de publicación: Estados Unidos

Buscar en Google

Añadir a Mi BVS

Imprimir

XML

PubMed Links