Medical genetics

Medical genetics

The study of the etiology, pathogenesis, and natural history of diseases and disorders that are at least partially genetic in origin.

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Medical genetics

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., microdeletions) at molecular ...

karyotyping

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 blood, bone marrow, ...

codominance

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.

pleiotropy

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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