Genetics: 3 DONE Flashcards
Differentiate between chromosomal abnormalities that relate to:
-Autosomal chromosomal abnormalities
Involves? ex?
-Sex chromosomal abnormalities involves? ex?
test question
Autosomal Chromosomal Abnormalities:
-Involves the first 22 pairs of chromosomes
EX: Down syndrome: extra copy of chromosome 21
Sex Chromosomal Abnormalities:
Involves the 23rd pair of chromosomes, which determine a person’s sex (X and Y chromosomes).
multifactorial patterns of inheritance.
Multifactorial inheritance (typically complex disorders)
* Most common congenital conditions
- Multiple genes and environmental interactions
- Examples: cleft lip, cleft palate, congenital heart disease, neural tube defects, and pyloric stenosis
Unifactorial patterns of inheritance.
Unifactorial inheritance is caused by?
Autosomal dominant?
Autosomal recessive?
X-linked dominant
X-linked recessive
Unifactorial inheritance – caused by mutations in a single gene (Mendelian genetics)
Autosomal dominant – only one mutated allele needed for expression (Marfan’s Syndrome)
Autosomal recessive – two copies of mutant gene needed for expression (Sickle cell disease)
X-linked dominant – dominant gene carried on X- chromosome, (Fragile X)
X-linked recessive – recessive gene carried on X- chromosome (Hemophilia)
Name of test? 1
What’s used?
She told us to know the name of the test and what’s used, but also know what each test is used for.
Alpha fetoprotein (AFP)
Maternal serum
Name of test? 2
What’s used?
Fetal nuchal translucency
Ultrasound
Name of test? 3
What’s used?
Triple and Quad screening
maternal serum
Name of test? 4
What’s used?
Preimplantation genetic testing
Genetic testing of embryos produced through IVF
Name of test? 5
What’s used?
Cell free DNA
Maternal plasma
who should be recommended for Genetic Testing?
2 criteria
know this!!!
Over 35
More than 2 losses
