mendelian disorder

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Related to mendelian disorder: Mendelian genetics

mendelian disorder

A popular term for any genetic disease which follows simple mendelian patterns of inheritance (e.g., autosomal recessive disorders, such as cystic fibrosis).

mendelian disorder

Clinical genetics A popular term for any genetic disease which follows simple mendelian patterns of inheritance–eg, autosomal recessive disorders, such as cystic fibrosis. Cf Nonmendelian disorder.

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The embryonic genome allowed us to perform a genomewide diagnosis of mendelian disorders, including 83 common mendelian disorders in the clinic involving 384 genes (Fig.

Embryo genome profiling by single-cell sequencing for preimplantation genetic diagnosis in a [beta]-thalassemia family

This is particularly true as we begin screening populations not previously evaluated for Mendelian disorders.

The case for universal carrier screening

Recent successes utilizing exome sequencing in diagnosing rare Mendelian disorders are abundant.

Diagnosing rate disorders using next generation sequencing

In rare cases, the source of the genetic contribution to the effects of smoking is clear--single-gene Mendelian disorders such as [alpha.

The will, and genes, to quit smoking

Gene pooling has given rise to increased susceptibility to certain rare Mendelian disorders among such groups as the Amish, the Ashkenazi Jews, the French Canadians, and the Afrikaners.

Racial profiling in medical research: what are we measuring?

These tests, which are performed in CLIA-certified laboratories, are mainly for mendelian disorders with well-established causal relationships between genes and diseases.

Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics

Another 43% have been for structural abnormalities, particularly of the central nervous system, and 4% were for mendelian disorders.

Selective termination of abnormal fetus safe. (Series of 200 Multifetal Gestations)

Chromosomal abnormalities cause some miscarriages but more likely explanations are Mendelian disorders (single-gene anomalies) or polygenic multifactorial disorders, he said.

Assays Won't Explain Multiple First-Trimester Losses

Since I spoke at this Forum in 1993 (1), the emphasis in human genetics research has shifted from rare Mendelian disorders to common, complex diseases, but "Issues of benefits and risks of genetic testing", the title of my earlier presentation, have, if anything, become more important.

Promoting safe and effective genetic tests in the united states: work of the task force on genetic testing