Partial trisomy 9 : clinical and cytogenetic correlations.
A study of three new cases with different trisomies involving chromosome 9 and a review of about 100 cases of partial trisomy 9 reported in the literature, suggested some cytogenetical and clinical correlations and lead us to propose the nomenclature of Rethore's syndrome type 1 and type 2.
D000328:Adult; D002648:Child; D002871:Chromosome Banding; D002906:Chromosomes, Human, 6-12 and X; D005145:Face / Q000002:abnormalities; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D014314:Trisomy