[X-linked mental retardation, macro-orchism, and X chromosome fragile site. Presentation of 6 cases in 2 families].
Six males, four adults and two children, with very important mental deficiency and speech disturbances, belonging to two families are presented. The six patients show the clinical peculiarities of the "X-linked mental retardation, macroorchidism, and the Xq27 fragile site", but the chromosomal alteration only was presented in five cases. Patient who did not have the chromosomal defect presented the same IQ than his brothers, but he had a less severe macroorchidism, a better speech and more normal clinical features. One of the patients shows a shorter arm which linkage with the syndrome is discussed.
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009929:Organ Size; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013064:Speech Disorders / Q000235:genetics; D013733:Testicular Diseases / Q000235:genetics*; D013737:Testis / Q000473:pathology; D014960:X Chromosome / Q000648:ultrastructure
Retraso mental ligado al cromosoma X, macroorquidismo y zona frágil en el cromosoma X. Presentación de seis casos de dos familias.