Familial Down's syndrome.
Investigation of an intensely consanguinized family in which three children were born with Down's syndrome (in one of them the diagnosis was uncertain) suggests the existence of a gene that favours chromosomal non-disjunction. In the same family there were two children with multiple malformations and two with neoplasia.
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D003241:Consanguinity; D004314:Down Syndrome / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D014429:Twins, Dizygotic