Further identification of a D/E translocation.
An infant previously reported to have psychomotor retardation and multiple congenital anomalies including hypotonia, failure to thrive, peculiar facies, low-set ears, micrognathia, and cryptorchidism in association with monosomy due to a D/E (13-15/17-18) translocation has been reexamined. Further cytogenetic studies, using fluorescent techniques, indicate the translocation involves chromosomes 15 and 17. Only two other patients with partial monosomy due to grossly similar D/E translocations have been reported. On reexamination, the translocation in one has recently been found to involve chromosomes 15 and 18 and that in the other has not been further defined.
D000015:Abnormalities, Multiple; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D002902:Chromosomes, Human, 16-18; D003456:Cryptorchidism / Q000235:genetics; D004827:Epilepsy / Q000209:etiology; D006801:Humans; D007223:Infant; D008297:Male; D008844:Micrognathism / Q000235:genetics; D011596:Psychomotor Disorders / Q000209:etiology; D012600:Scoliosis / Q000235:genetics / Q000601:surgery; D013123:Spinal Fusion; D014178:Translocation, Genetic