Elements of a Genetics Report

· ISCN

· sex

· mosaic?

· abnormal?

· abnormal clonal proliferation?

· apparently balanced?

· describe all cell lines

· abnormals

· don't forget normals

· explicitly state imbalances

· correlate with clinical findings

· does it fit?

· breakpoint near a gene that would fit with phenotype?

· are there any other findings that would be expected?

· counselling issues:

· prenatal:

· risk of abnormality

· need parental bloods

· risk of recurrence?

· parent:

· abnormal phenotype of parent? (infertility, other)

· risk of abnormal offspring

· at prenatal diagnosis

· liveborn

· family members

· oncology:

· prognosis

· predictive

· recommended further tests?:

· parents?

· FISH?

· breakpoint near an important gene?

· microarray?

· UPD?

· other genetic testing?

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References:

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