The fragile X syndrome I: familial variation in the proportion of lymphocytes with the fragile site in males.
A review of 61 males with the fragile X positive form of the Martin Bell syndrome from 30 families seen in the past 4 years suggests that the number of lymphocytes with the fragile site on the X chromosome (fra(X) ) in retarded males tends to be characteristic for the individual and similar to that found in other retarded males in the same family. The number of lymphocytes with fra(X) was not correlated with height, weight, occipitofrontal circumference, ear length or mean testicular volume in adults nor with age over the whole series.
D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D002648:Child; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D005600:Fragile X Syndrome / Q000235:genetics* / Q000473:pathology; D014644:Genetic Variation; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D007958:Leukocyte Count; D008214:Lymphocytes / Q000473:pathology* / Q000648:ultrastructure; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*