The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).
Juberg-Marsidi syndrome (McKusick 309590) is a rare X-linked recessive condition characterized by severe mental retardation, growth failure, sensorineural deafness, and microgenitalism. Here we report on the genetic mapping of the Juberg-Marsidi gene to the proximal long arm of the X chromosome (Xq12-q21) by linkage to probe pRX214H1 at the DXS441 locus (Z = 3.24 at theta = .00). Multipoint linkage analysis placed the Juberg-Marsidi gene within the interval defined by the DXS159 and the DXYS1X loci in the Xq12-q21 region. These data provide evidence for the genetic distinction between Juberg-Marsidi syndrome and several other X-linked mental retardation syndromes that have hypogonadism and hypogenitalism and that previously. Finally, the mapping of the Juberg-Marsidi gene is of potential interest for reliable genetic counseling of at-risk women.
Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U.12, France.
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Saugier-Veber
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Abadie
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Moncla
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Mathieu
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Piussan
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Turleau
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JF
Mattei
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Munnich
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Lyonnet
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D003638:Deafness / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic; D013577:Syndrome; D014960:X Chromosome