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  • Title: [Screening for fragile X syndrome in handicapped boys].
    Author: Steinbicker V, Missbach D, Goetz P, Subrt I, Seemanová E.
    Journal: Kinderarztl Prax; 1992 Aug; 60(6):163-7. PubMed ID: 1405391.
    Abstract:
    From a group of 201 mentally retarded boys 149 were clinically and somatometrically examined. Chromosomal analysis for detection of a fra(X)-syndrome was undertaken, when more than 3 of the chosen examination parameters were suspicious or when anamnestic clues for X-chromosomally linked mental retardation were present. 89 boys fulfilled above requirements, 14 of these had a fra(X)-syndrome (15.7%). The following symptoms were found with outstanding frequency: hyperactivity, hypotonic muscles, enlargement of testes, increased length of hands, retarded development of speech, dermatoglyphic abnormalities. If more than 3 of these findings occur, a chromosomal analysis for exclusion of a fra(X)-syndrome should be performed.
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