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

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 (Xq1...

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Bibliographic Details
Published in:American journal of human genetics 1993-06, Vol.52 (6), p.1040-1045
Main Authors: SAUGIER-VEBER, P, ABADIE, V, MONCLA, A, MATHIEU, M, PIUSSAN, C, TURLEAU, C, MATTEI, J.-F, MUNNICH, A, LYONNET, S
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
ANIMAL GROWTH
BASIC BIOLOGICAL SCIENCES
Biological and medical sciences
BIOLOGICAL MARKERS
BODY
Child
Chromosome Mapping
CHROMOSOMES
Complex syndromes
Deafness - genetics
DISEASES
Female
GENES
Genetic Linkage
GENETIC MAPPING
GROWTH
Growth Disorders - genetics
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HUMAN X CHROMOSOME
Humans
Hypogonadism - genetics
Infant, Newborn
Intellectual Disability - genetics
Juberg-Marsidi syndrome
Male
MALE GENITALS
man
MAPPING
Medical genetics
Medical sciences
MENTAL DISORDERS
ORGANS
Pedigree
Polymorphism, Genetic
Recombination, Genetic
SENSE ORGANS DISEASES
Syndrome
X Chromosome
X CHROMOSOME 550400 > Genetics
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Summary: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.
ISSN:0002-9297
1537-6605