Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Patricia Hendrie"'
Autor:
Carole A. Samango-Sprouse, Austin P. Gillies, Andrea L. Gropman, Patricia Hendrie, Grace F. Porter, Francie L. Mitchell, Laura L. Tosi, Patricia C. Lasutschinkow, Selena L. Tran, Leigh Ruland, Elmer N. Rajah, Rick Peret, Teresa Sadeghin
Publikováno v:
American Journal of Medical Genetics Part A. 185:3531-3540
49,XXXXY is the rarest X and Y chromosomal variation, with an incidence of 1 in 80,000-100,000 live male births and has been associated with numerous musculoskeletal abnormalities. Data was collected from an international cohort of boys with 49,XXXXY
Autor:
Sherida Powell, Patricia Hendrie, Patricia C. Lasutschinkow, Francie L. Mitchell, Carole A. Samango-Sprouse, Grace F. Porter, Andrea L. Gropman, Teresa Sadeghin
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(12)
49,XXXXY is a rare chromosomal variation characterized by deficits in motor, language, and cognitive domains. This study reports on the neurological function and dysmorphic features in the largest cohort to date. Seventy-two boys with 49,XXXXY were e