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  • Title: The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).
    Author: Saugier-Veber P, Abadie V, Moncla A, Mathieu M, Piussan C, Turleau C, Mattei JF, Munnich A, Lyonnet S.
    Journal: Am J Hum Genet; 1993 Jun; 52(6):1040-5. PubMed ID: 8503439.
    Abstract:
    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.
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