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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.
AuthorsP Saugier-Veber, V Abadie, A Moncla, M Mathieu, C Piussan, C Turleau, J F Mattei, A Munnich, S Lyonnet
JournalAmerican journal of human genetics (Am J Hum Genet) Vol. 52 Issue 6 Pg. 1040-5 (Jun 1993) ISSN: 0002-9297 [Print] United States
PMID8503439 (Publication Type: Journal Article)
Topics
  • Abnormalities, Multiple (genetics)
  • Child
  • Chromosome Mapping
  • Deafness (genetics)
  • Female
  • Genetic Linkage
  • Growth Disorders (genetics)
  • Humans
  • Hypogonadism (genetics)
  • Infant, Newborn
  • Intellectual Disability (genetics)
  • Male
  • Pedigree
  • Polymorphism, Genetic
  • Recombination, Genetic
  • Syndrome
  • X Chromosome

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