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

  • B C Hamel
  • , A P Smits
  • , B van den Helm
  • , D F Smeets
  • , N V Knoers
  • , T van Roosmalen
  • , G H Thoonen
  • , C F Assman-Hulsmans
  • , H H Ropers
  • , E C Mariman
  • , H Kremer

OnderzoeksoutputAcademicpeer review

30 Citaten (Scopus)

Samenvatting

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 straight theta = 0.0 in all four families.

Originele taal-2English
Pagina's (van-tot)290-304
Aantal pagina's15
TijdschriftAmerican Journal of Medical Genetics
Volume85
Nummer van het tijdschrift3
StatusPublished - 30-jul.-1999
Extern gepubliceerdJa

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