Trisomy 6q25→6qter in two sisters resulting from maternal 6;11 translocation

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Abstract
Chromosome banding was used to define a partial duplication of the long arm of chromosome 6 (6q25→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→6qter syndrome.