[Complex rearrangement of chromosomes 3 and 5 in an adolescent with multiple abnormalities].
Cytogenetic studies were performed on a severely mentally retarded adolescent with multiple congenital abnormalities (congenital heart disease, cryptorchidism and infantilism, rocker bottom feet and eye abnormalities). He had a complex rearrangement as a result of three breaks of chromosome 3 and two breaks of chromosome 5, and haphazard reunion of the fragments. This complex rearrangement appears balanced. The loss of very small chromosome fragments is perhaps the cause of the dysmorphia. The possibility of position effect is discussed.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002900:Chromosomes, Human, 1-3; D002905:Chromosomes, Human, 4-5; D003025:Clubfoot / Q000235:genetics; D003456:Cryptorchidism / Q000235:genetics; D005124:Eye Abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics; D012021:Reflex, Abnormal / Q000235:genetics; D014178:Translocation, Genetic
Remaniement complexe intéressant les chromosomes 3 et 5 chez un adolescent multimalforme