The fetal pathology of the XXXXY-syndrome.
A second case of fetal XXXXY-syndrome detected by prenatal chromosome analysis is presented. The pathological findings include a facial aspect featuring fetal Down's syndrome, hypogenitalism and hypogonadism with excessive reduction of germ cells and also skeletal abnormalities that may be interpreted as early changes, preceding phalangeal shortening V and radioulnar synostosis.
D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D005333:Fetus / Q000473:pathology; D006801:Humans; D007006:Hypogonadism / Q000235:genetics / Q000473:pathology; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D013577:Syndrome