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X-linked recessive ...
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Lagerström-Fermér, MariaUppsala universitet,Medicinsk genetik
(author)
X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26
- Article/chapterEnglish1997
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Numbers
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LIBRIS-ID:oai:DiVA.org:uu-51918
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-51918URI
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism, now in its fourth generation. Affected members exhibit variable degrees of hypopituitarism and mental retardation. The markers DXS737 and DXS1187 in the q25-q26 region of the X chromosome showed evidence for linkage with a peak LOD score (Zmax) of 4.12 at zero recombination fraction (theta(max) = 0). An apparent extra copy of the marker DXS102, observed in the region of the disease gene in affected males and heterozygous carrier females, suggests that a segment including this marker is duplicated. The gene causing this disorder appears to code for a dosage-sensitive protein central to development of the pituitary.
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Sundvall, MatsUppsala universitet,Medicinsk genetik
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Johnsen, ElsyUppsala universitet,Medicinsk genetik
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Warne, GL
(author)
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Forrest, SM
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Zajac, JD
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Richards, A
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Ravine, D
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Landegren, UlfUppsala universitet,Medicinsk genetik(Swepub:uu)ulfland
(author)
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Pettersson, UlfUppsala universitet,Medicinsk genetik(Swepub:uu)ulfpette
(author)
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Uppsala universitetMedicinsk genetik
(creator_code:org_t)
Related titles
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In:American Journal of Human Genetics60:4, s. 910-9160002-92971537-6605
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