Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome

The Wieacker-Wolff syndrome (WWS, MIM* 314580), first described clinically in 1985, is an X-linked recessive disorder. In earlier studies, linkage between the WWS gene and DXYS1 at Xq21.2 and DXS1 at Xq11 as well as AR at Xq12 was reported. Here we report on a linkage analysis using highly polymorph...

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Published inHuman genetics Vol. 100; no. 3-4; pp. 426 - 430
Main Authors KLOOS, D.-U, JAKUBICZKA, S, WIENKER, T, WOLFF, G, WIEACKER, P
Format Journal Article
LanguageEnglish
Published Heidelberg Springer 01.09.1997
Berlin
New York, NY
Subjects
Biological and medical sciences
Centromere
Chromosome Mapping
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Female
Haplotypes
Humans
Intellectual Disability - genetics
Male
Medical sciences
Neurology
Pedigree
Syndrome
X Chromosome
Genetic mapping
Human
Sex linked character
Neuromuscular diseases
Nervous system diseases
Linkage
Genetic marker
Central nervous system disease
Wieacker syndrome
X-Chromosome
Complex syndrome
Genetic disease
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Summary:The Wieacker-Wolff syndrome (WWS, MIM* 314580), first described clinically in 1985, is an X-linked recessive disorder. In earlier studies, linkage between the WWS gene and DXYS1 at Xq21.2 and DXS1 at Xq11 as well as AR at Xq12 was reported. Here we report on a linkage analysis using highly polymorphic, short terminal repeat markers located in the segment from Xp21 to Xq24. No recombination between the WWS locus and ALAS2 or with AR (z = 4.890 at theta = 0.0) was found. Therefore, the WWS locus was assigned to a segment of approximately 8 cM between PFC (Xp11.3-Xp 11.23) and DXS339 (Xq11.2-Xq13).
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ISSN:0340-6717
1432-1203
DOI:10.1007/s004390050528