Home > Blossary: UIC-COM Medical Genetics
Medical Genetics terms and definitions

Category: Science

6 Terms

Created by: erkaufman

Number of Blossarys: 1

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

Domain: Medical; Category: 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.

Domain: Medical; Category: Medical genetics

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

Domain: Medical; Category: Medical genetics

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

Domain: Medical; Category: 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 ...

Domain: Medical; Category: 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, ...

Domain: Medical; Category: Medical genetics

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