Trisomy 6qter
- 1 March 1981
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 19 (3) , 202-206
- https://doi.org/10.1111/j.1399-0004.1981.tb00697.x
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 9 patients with 6qter trisomy were 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.Keywords
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