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Introduction to Patho and Genetics

AB
HomeostasisState of equilibrium or balance
PathophysiologyStudy of illness in the human body
EtiologyCausative factors
GeneticsThe study of the expression of traits passed on through generations
Genepart of DNA that contains information about traits
Stronger allele. Will be expressedDominant
Weaker alleleRecessive
Autosomesfirst 22 pairs of chromosomes
Sex Chromosome23rd pair of chromosome
Autosomal dominant disordersAdult polycystic kidney disease; huntington; marfan syndrome
Autosomal recessive disordersCystic fibrosis; sickle cell anemia
X-linked dominantFragile X syndrome
X-linked recessiveColor blindness; duchenne muscular dystrophy; hemophilia A
Multifactorial disordersCleft lip/palate; clubfoot; congenital heart disease; DM 2
Chromosomal disordersDown syndrome; klinefelter; turner
Trisomy 21Down syndrome; extra copy of chromosome on the 21st pair
Down Syndrome Risk FactorsIncreased maternal age
Down Syndrome DiagnosticsChorionic villus sampling (CVS); Amniocentesis; Percutaneous umbilical blood sampling (PUBS):
Down Syndrome ManifestationsLarge protruding tongue; small hands; simian crease; cleft lip/palate; hernias; small head; flat nose and face; hypotonic muscles; narrowed ear canals



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