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fluorescence in situ hybridization (FISH)

Medical; Medical genetics

Fluorescent DNA or RNA probe binds to specific gene site of interest on chromosomes. Used for specific localization of genes and direct visualization of anomalies (e.g., ...


Medical; Medical genetics

A process in which metaphase chromosomes are stained, ordered, and numbered according to morphology, size, arm-length ratio, and banding pattern. Can be performed on a sample of ...


Medical; Medical genetics

Both alleles contribute to the phenotype in a heterozygote. Example: blood groups A, B, AB.

variable expressivity

Medical; Medical genetics

Phenotype varies among individuals with the same genotype. Example: 2 patients with neurofibromatosis type 1 (NF1) may have varying disease severity.

incomplete penetrance

Medical; Medical genetics

Not all individuals with a mutant genotype will show the mutant phenotype. Example: BRCA1 gene mutations do not always result in breast or ovarian cancer.


Medical; Medical genetics

One gene contributes to multiple phenotypic effects. Example: PKU causes many seemingly unrelated symptoms, ranging from mental retardation to hair/skin changes.

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Medical; Medical genetics

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