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The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

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.

SUBMITTER: Saugier-Veber P

PROVIDER: S-EPMC1682258 | biostudies-literature | 1993 Jun

REPOSITORIES: biostudies-literature

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The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

Saugier-Veber P P Abadie V V Moncla A A Mathieu M M Piussan C C Turleau C C Mattei J F JF Munnich A A Lyonnet S S

American journal of human genetics 19930601 6

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 l ...[more]

PMID: 8503439

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