Trisomy 6q25 leads to 6qter in two sisters resulting from maternal 6;11 translocation.
Chromosome banding was used to define a partial duplication of the long arm of chromosome 6 (6q25 leads to 6qter) in two profoundly affected sisters and to identify their phenotypically normal mother and sister as balanced translocation carriers whose karyotypes were interpreted as 46,XX,t(6;11) (q25;q25). Prominent clinical features included profound mental retardation, hypertelorism, micrognathia, down-turned mouth, dental anomalies, clubfeet, webbed neck, late progressive scoliosis, flexion contractures, and low total finger ridge count. By comparison with published reports, it has been possible to establish a trisomy 6q25 leads to 6qter syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002871:Chromosome Banding; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D010375:Pedigree; D010641:Phenotype; D012600:Scoliosis / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy