X-linked syndrome: mental retardation, hip luxation, and G6PD variant [Gd(+) Butantan].
An apparently new X-linked syndrome is presented. It occurred in four male first cousins. The main manifestations of this syndrome are severe mental retardation, bilateral congenital hip luxation, and short stature. Three of the affected males showed a new glucose-6-phosphate dehydrogenase variant.
dos Santos
R C
RC
Serviço de Genética, Instituto Butantan, São Paulo, Brasil.
Barretto
O C
OC
Nonoyama
K
K
Castro
N H
NH
Ferraz
O P
OP
Walter-Moura
J
J
Vescio
C C
CC
Beçak
W
W
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006618:Hip Dislocation, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome
D005819:Genetic Markers; D005954:Glucosephosphate Dehydrogenase