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PubMed · 7273465

Trisomy 6qter.

C Turleau·J de Grouchy
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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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Abnormalities, MultipleChildChromosome BandingChromosomes, Human, 6-12 and XGrowth DisordersHumansIntellectual DisabilityMaleSyndromeTrisomyCase ReportsJournal Article

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BibTeXRIS

C Turleau, J de Grouchy. 1981. Trisomy 6qter.. https://doi.org/10.1111/j.1399-0004.1981.tb00697.x

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