A pair of siblings with diastrophic dysplasia and E trisomy mosaicism.
A mixture of clinical signs seen in diastrophic dysplasia as well as in trisomy 18 was found in two siblings with an E trisomy mosaicism. The E trisomy mosaicism was present in blood and skin during the first years of life, but disappeared later on.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009030:Mosaicism; D014314:Trisomy