Study sets, textbooks, questions
Upgrade to remove ads
ch 6 - final review
Terms in this set (25)
What is the definition of congenital?
present at birth
22 pairs of chromosomes are called
The 23rd pair of chromosomes are called
What is the definition of chromosomal abnormalities?
abnormal number of chromosomes; generally results from alterations to the structure of one or more chromosomes
What is an example of a chromosomal abnormality?
Aneuploidy (like down syndrome/trisomy 21, edwards/trisomy 18, patau syndrome/ trisomy 13)
What is the definition of monosomy?
What is the definition of polysomy?
What is an example of a sex chromosome aneuploidy?
klinefelter syndrome (usually an extra X chromosome), turner syndrome (missing an X chromosome)
What is the definition of abnormal chromosome structure?
usually resulting from breakage and loss or rearrangement of chromosome pieces during meiosis or mitosis
What are common types of chromosomal rearrangement?
translocations, inversions, deletions, duplications
Example of abnormal chromosome structure?
cri du chat syndrome (deletion of part of the short arm of chromosome 5) ; characterized by round face, mental disability and heart anomalies
What is the definition of mendelian single gene disorders?
result from alterations or mutations of single genes (autosomal vs sex chromosome ; dominant vs. recessive)
What is the definition of autosomal dominant disorders?
caused by mutation of specific autosomal gene (marfan syndrome- connective tissue disorder, Huntington- neurologic deterioration)
Autosomal recessive disorders: What is albinism?
lack of pigmentation from disrupted melanin synthesis
Autosomal recessive disorders: What is pku?
inborn error of metabolism, xs phenylalanine in urine, affects nervous system
Autosomal recessive disorders: What is cystic fibrosis?
defect in a membrane transporter for chloride ions in epithelial cells called CFTR, production of abnormally thick secretions in glandular tissues
For sex linked disorders, males ____ express disease (only have one X chromosome)
For sex linked disorders, females always express disease IF ____ X chromosomes are mutated
Sex linked disorder: What is hemophilia A?
bleeding disorder from lack of factor VIII
What is the definition of non-mendelian single gene disorders?
long triplet repeat mutations, mitochondrial DNA mutations, and genomic imprinting
What is the definition of polygenic traits?
traits that develop in response to more than one gene (height, weight, intelligence)
Traits and disorders influenced by multiple genes as well as environmental factors are called
Multifactorial traits tend to ____ ___ ____
run in families
What are teratogens?
factors/ agents that cause congenital malformations
In between what weeks is the embryo very susceptible to teratogenesis
3rd to 9th week
Sets with similar terms
DPAT 5001 - Genetic Abnormalities
Genetics and Congenital Disorders
Patho 1: Chapter 6: Genetic + congenital disorders
Gould's Pathophysiology Chapter 21
Sets found in the same folder
Ch. 13: Alterations in oxygen transport
CH 15 Alterations in blood flow
Ch 16: Alterations of Blood Pressure
Ch 17 - Cardiac Function
Other sets by this creator
ch 7 - final review
Ch 4 - final review
Ch 1 final review
Ch 24 - Fluid and electrolyte homeostasis and imba…