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

Among Mendelian disorders, four types are recognizable: autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive.

Genetic anomaly or genetic diversity: thinking in the key of disability on the human genome

Screening for carriers of Mendelian disorders has traditionally focused on a limited number of diseases, as determined by the parents' ethnicity and race.

The case for universal carrier screening

Chromosomal microarrays currently in development are more accurate than karyotypes, and should soon be able to detect many common Mendelian disorders, Dr.

First Trimester genetic screening urged

She describes changes and repair at the molecular DNA level, Mendelian inheritance, molecular explanations for unexpected phenotypes in Mendelian disorders, cancer genetics, developmental genetics, the role of genetics in complex diseases, gene therapy, and the new field of individualized medicine instigated by genetics.

Medical genetics for the modern clinician

Although the concept of grouping Mendelian disorders associated with an up-regulation of type I interferon (IFN) has not been previously recognised in the medical literature, my past and current work argues that this concept has scientific validity and clinical utility.

United Kingdom - Definition and characterization of type I interferonopathies

Many Mendelian disorders such as cystic fibrosis are caused by mutations in a single gene, whereas other inherited disorders, such as X-Linked Intellectual Disability (XLID), can have a significant number of underlying causative genes.

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.sub.1]-antitrypsin deficiency show a very strong gene-environment interaction.

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?

Some of the early success stories with our technology include the first demonstration that WGS in a nuclear family could determine the genetic underpinnings of mendelian disorders (2) and furthering the understanding of what causes cancer (3, 4).

Accurate whole genome sequencing as the ultimate genetic test

Another 43% have been for structural abnormalities, particularly of the central nervous system, and 4% were for mendelian disorders. The remaining 3% were for other indications such as severe oligohydramnios.

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

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