NURS 3366 RRD 1 WITH COMPLETE SOLUTIONS 100%
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Spontaneous Disorders - ANSWER Ex: High level of exposure to radiation causes a
mutation in a gene > becomes an "oncogene" which causes rapid, wild proliferation of
cell growth > skin cancer developes
Mitochondrial DNA Disorders - ANSWER Disorders of the DNA located in the
mitochondria; very uncommon
Environmental-ANSWER Any influence other than inherited (in terms of Genetics
Onco-ANSWER Prefix meaning relating to a Cancer
Multifactorial Genetic Disorders ANSWER Combination of environmental triggers and
variations/mutations of genes, plus sometimes inherited tendencies ex: lung cancer
begins by smoke & toxins inheriting bronchial tissue > one/more genes in cells of that
tissue begin to be deranged=oncogenes created > code for wild, uncontrolled growth of
cells); HTN, CAD, DM now known to be caused or highly influenced by mix of
environmental and inherited components
Teratogenic Disorders - ANSWER Disorders caused by a teratogen, which is any
influence (drugs, radiation, viruses, etc.) that can cause congenital defects
Congenital Defects - ANSWER Abnormalities that are either detectable at birth and/or
can be attributed to fetal development "glitches"
Fetal Alcohol Syndrome (FAS) - ANSWER Congenital defect causes by gene mutation
from alcohol toxicity (from mother's consumption) during gestational development
, "Thalidomide babies" - ANSWER Born with abnormal arms and legs due to mothers
taking the drug thalidomide for nausea during early pregnancy
Chromosomal Disorders (or Chromosomal Aberrations) - ANSWER Type of genetic
disorder that results from alterations to the numbers or structure of a chromosome,
which in turn alters the "local" genes (genes in immediate area); the genes' functionality
is disrupted and they don't code proteins correctly, giving rise to the phenotype (S&S) of
the disorder
Aneuploidy - ANSWER Have the suffix "-somy"
Polysomy - ANSWER Having more than the usual number of chromosomes (ex: Down's
Syndrome)
Trisomy 21 - ANSWER Extra chromosome at gene site #21 (3 chromosomes instead of 2)
- Down's Syndrome; phenotype includes mental retardation; physical characteristics
could include low-set ears, epicanthic fold to the eyes, short limbs, and a
larger-than-normal tongue; *Trisomy 21 (Down's Syndrome) is a polysemic aneuploidy*
Translocation - ANSWER Alterations in chromosomal structure that leads to some types
of chromosomal aberrations; deletion, duplication, or rearrangement of gene sites on
the chromosome (ex: Philadelphia chromosome)
Single-gene Disorders - ANSWER Usually due to an inherited mutated gene; inherited in
recognizable patters - autosomal recessive, autosomal dominant, and sex-linked
Autosomal Recessive Disorder - ANSWER Occurs when a mutated ("diseased")
recessive ("weak") gene partners up with an allele that is also recessive & diseased;
those alleles are notated with two lower-case letters (ex: phenylketonuria (PKU), cystic
fibrosis, Tay-Sachs disease, Wilson's disease, sickle cell anemia); "Big" letter will be the
dominant, normal, non-diseased gene & "little" letter will be the recessive, non-normal,
diseased gene
Anemia - ANSWER When there are less-than-normal numbers of RBCs in the blood; can
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