Repeat of part of 6: It means that a sequence on the place designated 27 on the long arm of chromosome 6 is duplicated with or without detectable phenotypic consequences.
Answered 3/28/2017
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Spinocerebellar atax: Omim suggests that this locus is lnked to familial spinocerebellar ataxia, a progressive neurodegenerative disorder of the huntington disease spectrum. Prompt genetic couseling and exploration of all reproductive options is warranted if this was found on invasive prenatal diagnosis!
Answered 7/5/2012
6.1k views
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