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Chapter 21

Congenial & Genetic Disorders

TermDefinition
Male sex chromosome XY
Female sex chromosome XX
allele one of two forms of a gene at corresponding sites on a chromosome pair; the code for phenotype or characteristic manifested in an individual
Multifactorial Disorders result from a combination of genetic predisposition & exposure to certain environmental factors; ex: cleft lip or palate
Developmental Disorders are caused by damage to one or more body structures during embryonic or fetal development, during labor & delivery, or shortly after birth; ex: exposure to radiation during pregnancy, smoking, drugs, viruses
Chromosomal Disorders involve an abnormal distribution of the chromosomes or dislocation of a part or loss of a chromosome; ex: down syndrome
Congenital Disorders are conditions that are present in the individual at birth but are not necessarily manifested until later in life
TORCH: prenatal screening test for high-risk maternal infections T-oxoplasmosis O-ther (hep B, mumps, gonorrhea, syphilis) R-ubella C-ytomegalovirus H-erpes
Autosomal Recessive Disorders carrier state; both parents must pass on the defective gene; ex: cystic fibrosis, sickle cell anemia
X-Linked Recessive Disorders carrier state; both parents must pass on the defective gene; ex: color blindness, duchenne muscular dystrophy, hemophilia A
Autosomal Dominant Disorders no carriers, and unaffected persons do not transmit the disorder; ex: Huntington's
X-Linked Dominant Disorders fragile X syndrome; most common cause of mental retardation, cognitive deficit, & learning disorders
Example of single gene disorders Autosomal Dominant Autosomal Recessive X-Linked dominant X-Linked Recessive
Single gene Disorders are caused by a change in one gene within the reproductive cells (ova or sperm); this mutant gene is then transmitted to subsequent generations following the specific inheritance pattern for that gene
Created by: mschumacher1