Search Results
Educational Resources
A proband is an individual being studied or reported on.
… A proband is an individual being studied or reported on. … Birth Defect, Inherited, Carrier, Carrier Screening, Genetic …
Educational Resources
Non-directiveness refers to the nature of the genetic counseling process.
… of the genetic counseling process. … Carrier Screening, Birth Defect, Genetic Screening, Genetic Testing, Family …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… of low density lipoprotein (LDL) cholesterol beginning at birth and heart attacks at an early age. … Familial … of LDL (low density lipoprotein) cholesterol beginning at birth, and heart attacks at an early age. Cholesterol is a … increased low density lipoprotein (LDL) cholesterol at birth and heart attacks at an early age. … Familial …
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers (a … a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers (a … are: Can DNA sequencing identify the same conditions at birth with as much accuracy and speed as traditional methods? …
Talking Glossary
Gender involves how a person identifies along a broad, fluid spectrum, rather than strictly by the sex assignment they received at birth.
… than strictly by the sex assignment they received at birth. … Gender is an evolving term, and there are different … than strictly by the sex assignment they received at birth. Sex refers to the physical differences (e.g., … Gender does not always directly relate to sex assigned at birth. … Gender involves how a person identifies along a …
News Release
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.
NEWS RELEASE
Cristina Kapustij, M.S., was named chief of the NHGRI's Policy and Program Analysis Branch.
… she co-authored the "Enhancing Humans" chapter of From Birth to Death and Bench to Clinic: The Hastings Center … and Program Analysis Branch, NHGRI policy chief, From Birth to Death and Bench to Clinic, policy analysis … …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… of the hands and feet, skeletal abnormalities, heart defects and kidney problems. This condition occurs in about 1 … and widely spaced nipples. Sometimes diagnosis is made at birth because of heart problems, an unusually wide neck or … the care of a specialist pediatrician immediately after birth. Diagnosis is confirmed by a blood test, called a …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… A severe type of Type 1 myotonic dystrophy can be seen at birth. This form of Type 1 is called congenital myotonic … electrical control of their heartbeat (cardiac conduction defects). Men who have myotonic dystrophy have changes in … Muscle Weakness, Myotonia, Cateracts, Cardiac Conduction Defects, Infertility … Myotonic dystrophy is an inherited …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… of the mouth, and other differences in the palate; heart defects; problems fighting infection; low calcium levels; … features are palatal differences (~75 percent), heart defects (75 percent), problems fighting infection (77 … the type of symptoms that are present. For example, heart defects are treated as they would normally be via surgical …