Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Video
Divisions
Educational Resources
Congenital conditions are those present from birth.
… Congenital … Congenital conditions are those present from birth. … Birth … Genetic Mutation, Newborn Screening, Genetics, Pregnancy … Congenital refers to a condition or trait that exists at birth. Congenital conditions or traits may be hereditary or result …
Talking Glossary
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders.
… is a pattern of inheritance characteristic of some genetic disorders. … Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is … is a pattern of inheritance characteristic of some genetic disorders. … Talking Glossary …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… problems, and repetitive behaviors. … Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… performed on newborn babies to detect a wide variety of disorders. … Newborn Screening, Genetic Disorder, Family … performed on newborn babies to detect a wide variety of disorders. … Educational Resources …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
Educational Resources
A birth defect is an abnormality present at birth.
… … A birth defect is an abnormality present at birth. … Congenital Defect, Genetic Mutation, Pregnancy, Newborn Testing … A birth defect (also called a congenital defect) is a physical or physiological abnormality …
Educational Resources
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder.
Talking Glossary
A pathogenic variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease.