XXYYY Syndrome

49,XXYYY syndrome is a intersex CTM/DMAB variation. It's featured with facial dysmorphism, mild microcephaly, limitation of supination at the elbows, delayed bone age and moderate intellectual disability. Tissues sampled for chromosome studies of external ambiguous genitalia and abdominal gonads, consisting of a left ovotestis and a right primitive testis, contained cells 46,XX, 47,XXY and 49,XXYYY sex chromosomes.