Congenial & Genetic Disorders
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
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| Male sex chromosome | XY
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| Female sex chromosome | XX
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| 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
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| Multifactorial Disorders | result from a combination of genetic predisposition & exposure to certain environmental factors; ex: cleft lip or palate
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| 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
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| Chromosomal Disorders | involve an abnormal distribution of the chromosomes or dislocation of a part or loss of a chromosome; ex: down syndrome
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| Congenital Disorders | are conditions that are present in the individual at birth but are not necessarily manifested until later in life
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| TORCH: prenatal screening test for high-risk maternal infections | T-oxoplasmosis
O-ther (hep B, mumps, gonorrhea, syphilis)
R-ubella
C-ytomegalovirus
H-erpes
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| Autosomal Recessive Disorders | carrier state; both parents must pass on the defective gene; ex: cystic fibrosis, sickle cell anemia
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| X-Linked Recessive Disorders | carrier state; both parents must pass on the defective gene; ex: color blindness, duchenne muscular dystrophy, hemophilia A
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| Autosomal Dominant Disorders | no carriers, and unaffected persons do not transmit the disorder; ex: Huntington's
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| X-Linked Dominant Disorders | fragile X syndrome; most common cause of mental retardation, cognitive deficit, & learning disorders
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| Example of single gene disorders | Autosomal Dominant
Autosomal Recessive
X-Linked dominant
X-Linked Recessive
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| 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
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Created by:
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