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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Authors | P Saugier-Veber, V Abadie, A Moncla, M Mathieu, C Piussan, C Turleau, J F Mattei, A Munnich, S Lyonnet |
Journal | American journal of human genetics
(Am J Hum Genet)
Vol. 52
Issue 6
Pg. 1040-5
(Jun 1993)
ISSN: 0002-9297 [Print] United States |
PMID | 8503439
(Publication Type: Journal Article)
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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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