[Screening for fragile X syndrome in handicapped boys].
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.
Steinbicker
V
V
Abteilung Humangenetik, Medizinische Akademie Magdeburg.
Missbach
D
D
Goetz
P
P
Subrt
I
I
Seemanová
E
E
D002648:Child; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male
Screenings auf das Syndrom fragiles X bei behinderten Knaben.