[Early diagnosis of fragile X mental retardation syndrome].
Conducting an inquiry among 32 parents of 46 children with fragile-X mental retardation, we investigated the problems on early recognition of the syndrome. From the first call for medical help until establishment of the diagnosis, on average 2 years elapsed. The family history is very important, since in 82.5% of the cases mental retardation also occurred in other family members. We recommend that investigations should be performed in all children who do not repeat words and/or do not walk without help, at the age of 18 months. A high priority must then be given to specific investigations on the X-chromosomal fragile site.
Kan
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Klinisch Genetisch Centrum, Academisch Ziekenhuis Leiden.
Maaswinkel-Mooij
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Veenema
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H
D002657:Child Development; D002675:Child, Preschool; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D006801:Humans; D007223:Infant; D008297:Male; D008487:Medical History Taking; D011597:Psychomotor Performance
Vroegtijdige herkenning van het fragiele-X-mentale-retardatie-syndroom.