5 doctors weighed in:

Does anyone know what 6q27 duplication could entail? I can't fibd any information on this particular chromosome. Thanks!

5 doctors weighed in
Dr. Karl Muench
Clinical Genetics
3 doctors agree

In brief: 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.

In brief: 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.
Dr. Karl Muench
Dr. Karl Muench
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Dr. Nikolaos Zacharias
Obstetrics & Gynecology - Maternal Fetal Medicine

In brief: 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!

In brief: 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!
Dr. Nikolaos Zacharias
Dr. Nikolaos Zacharias
Thank
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