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.

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 39; no. 2; p. 133
Main Authors dos Santos, R C, Barretto, O C, Nonoyama, K, Castro, N H, Ferraz, O P, Walter-Moura, J, Vescio, C C, Beçak, W
Format Journal Article
LanguageEnglish
Published United States 01.05.1991
Subjects
Adolescent
Adult
Child
Female
Genetic Linkage
Genetic Markers
Genetic Variation
Glucosephosphate Dehydrogenase - genetics
Hip Dislocation, Congenital - genetics
Humans
Intellectual Disability - genetics
Male
Pedigree
Syndrome
X Chromosome
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Summary: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.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320390204