ArticleAmerican journal of human genetics1993
The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed.
- Regulation of striatal D1A dopamine receptor gene transcription by Brn-4.Proceedings of the National Academy of Sciences of the United States of America · 1996Article
- A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.American journal of human genetics · 1996Article
- Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.American journal of human genetics · 1996Article
- A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.American journal of human genetics · 1994Article
- X-linked mental retardation: in pursuit of a gene map.American journal of human genetics · 1993Article
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9 authors.
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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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