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Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

✍ Scribed by Hamel, Ben C.J.; Smits, Arie P.T.; van den Helm, Bellinda; Smeets, Dominique F.C.M.; Knoers, Nine V.A.M.; van Roosmalen, Tanja; Thoonen, Geert H.J.; Assman-Hulsmans, Claire F.C.H.; Ropers, Hans-Hilger; Mariman, Edwin C.M.; Kremer, Hannie

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 185 KB
Volume: 85
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990730)85:3<290::aid-ajmg21>3.0.co;2-h

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✦ Synopsis

Four families are described in which mental retardation segregates in an X-linked fashion. Mental retardation was the only consistent clinical finding in all affected males. The degree of retardation varied from mild to profound both between and within families. Linkage analysis localized the genetic defect of MRX43 to Xp22.31-p21.2, MRX44 to Xp11.3-p11.21, MRX45 to Xp11.3-p11.21, and MRX52 to Xp11.21-q21.33 with LOD scores of >2 at = 0.0 in all four families. Am.

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