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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1993 Jun;52(6):1040–1045.

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

P Saugier-Veber 1, V Abadie 1, A Moncla 1, M Mathieu 1, C Piussan 1, C Turleau 1, J F Mattei 1, A Munnich 1, S Lyonnet 1
PMCID: PMC1682258  PMID: 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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Selected References

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