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The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).
Am J Hum Genet. 1993 Jun; 52(6):1040-5.AJ

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.

Authors+Show Affiliations

Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U.12, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

8503439

Citation

Saugier-Veber, P, et al. "The Juberg-Marsidi Syndrome Maps to the Proximal Long Arm of the X Chromosome (Xq12-q21)." American Journal of Human Genetics, vol. 52, no. 6, 1993, pp. 1040-5.
Saugier-Veber P, Abadie V, Moncla A, et al. The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21). Am J Hum Genet. 1993;52(6):1040-5.
Saugier-Veber, P., Abadie, V., Moncla, A., Mathieu, M., Piussan, C., Turleau, C., Mattei, J. F., Munnich, A., & Lyonnet, S. (1993). The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21). American Journal of Human Genetics, 52(6), 1040-5.
Saugier-Veber P, et al. The Juberg-Marsidi Syndrome Maps to the Proximal Long Arm of the X Chromosome (Xq12-q21). Am J Hum Genet. 1993;52(6):1040-5. PubMed PMID: 8503439.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21). AU - Saugier-Veber,P, AU - Abadie,V, AU - Moncla,A, AU - Mathieu,M, AU - Piussan,C, AU - Turleau,C, AU - Mattei,J F, AU - Munnich,A, AU - Lyonnet,S, PY - 1993/6/1/pubmed PY - 1993/6/1/medline PY - 1993/6/1/entrez SP - 1040 EP - 5 JF - American journal of human genetics JO - Am J Hum Genet VL - 52 IS - 6 N2 - 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. SN - 0002-9297 UR - https://www.unboundmedicine.com/medline/citation/8503439/The_Juberg_Marsidi_syndrome_maps_to_the_proximal_long_arm_of_the_X_chromosome__Xq12_q21__ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/8503439/ DB - PRIME DP - Unbound Medicine ER -