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  • Title: Trisomy 6qter.
    Author: Turleau C, de Grouchy J.
    Journal: Clin Genet; 1981 Mar; 19(3):202-6. PubMed ID: 7273465.
    Abstract:
    A previously reported patient with trisomy for the distal part of 6q was shown by R-banding to be trisomic for 6q26qter, due to a t(6;22)(q26;p12) mat. Altogether nine patients with 6qter trisomy have been reported. The main features of the 6qter trisomy syndrome are: severe mental and growth retardation; acrocephaly and brachycephaly; a carp-shaped mouth; micrognathia; a very short neck with unusual anterior webbing; joint contractures; the absence of severe inner organ malformations; and survival into adulthood.
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