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

Journal Article · Tue Jun 01 00:00:00 EDT 1993 · American Journal of Human Genetics; (United States)

OSTI ID:6449947

Saugier-Veber, P; Abadie, V; Turleau, C; Munnich, A; Lyonnet, S ^[1]; Moncla, A ^[2]; Mathieu, M; Piussan, C; Mattei, J F ^[3]

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1. Hopital des Enfants Malades, Paris (France)
2. Centre de Genetique Medicale, Marseille (France)
3. Centre Hospitalier et Universitaire, Amiens (France)

Juberg-Marsidi syndrome (McKusick 309590) is a rare X-linked recessive condition characterized by severe mental retardation, growth failure, sensorineural deafness, and microgenitalism. Here the authors 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 have been localized previously. Finally, the mapping of the Juberg-Marsidi gene is of potential interest for reliable genetic counseling of at-risk women. 25 refs., 2 figs., 3 tabs.

• OSTI ID: 6449947
• Journal Information: American Journal of Human Genetics; (United States), Vol. 52:6; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
HUMAN X CHROMOSOME
GENETIC MAPPING
MENTAL DISORDERS
GENES
ANIMAL GROWTH
BIOLOGICAL MARKERS
MALE GENITALS
SENSE ORGANS DISEASES
BODY
CHROMOSOMES
DISEASES
GROWTH
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
MAPPING
ORGANS
X CHROMOSOME
550400* - Genetics