Nurs 243: Genetics, Epigenetics, & Genetic Disorders
Questions With Complete Solutions
Alleles Correct Answers alternative form of a gene at the same
locus
Aneuploidy Correct Answers change in number of
chromosomes
Autosomal dominant disorders Correct Answers only need one
copy of the mutant gene
-50% chance of inheriting a dominant genetic disorder from an
affected parent
-can be expressed differently
Autosomal recessive disorders Correct Answers both members
of the gene pair are affected
-both parents may be unaffected carriers
-onset usually early in life
-characteristic loss of function mutations
Base pair substitution Correct Answers loss, addition or
rearrangement of base pair
Chromatin Correct Answers DNA molecules tightly packed
-regulates genetic transcription
Chromosomal disorders Correct Answers account for a large
portion of early gestational abortions
-breakage, loss or translocation of genetic material during
meiosis
, Chromosomal disorders (common types) Correct Answers -
trisomy 21 (Down syndrome)--> 47= X,Y + 21
-trisomy 18 (Edwards syndrome)--> 47= X,Y + 18
-Cri-du-chat--> 46= X,Y - 5p
Chromosomal X-Y disorders Correct Answers turner's
syndrome & klinefelter's
Components of a genetic assessment Correct Answers -
Assessment of genetic risk and prognosis
-Detailed family history
-Pregnancy history
-Detailed accounts of birth process
-Accounts of postnatal health and development
-Physical examination of the affected child and family
-Laboratory tests
Congenital disorders Correct Answers -teratogenic agents
-fetal alcohol syndrome
-folic acid deficiency
Criteria for defining FAS Correct Answers -prenatal or
postnatal growth retardation
-weight or length below the 10th percentile
-CNS involvement: neurologic abnormalities, developmental
delays, behavioral dysfunction, intellectual impairment, skull
and brain malformation
DNA organization of chromosomes (how many pairs & types)
Correct Answers 23 pairs of chromosomes (46 total)
Questions With Complete Solutions
Alleles Correct Answers alternative form of a gene at the same
locus
Aneuploidy Correct Answers change in number of
chromosomes
Autosomal dominant disorders Correct Answers only need one
copy of the mutant gene
-50% chance of inheriting a dominant genetic disorder from an
affected parent
-can be expressed differently
Autosomal recessive disorders Correct Answers both members
of the gene pair are affected
-both parents may be unaffected carriers
-onset usually early in life
-characteristic loss of function mutations
Base pair substitution Correct Answers loss, addition or
rearrangement of base pair
Chromatin Correct Answers DNA molecules tightly packed
-regulates genetic transcription
Chromosomal disorders Correct Answers account for a large
portion of early gestational abortions
-breakage, loss or translocation of genetic material during
meiosis
, Chromosomal disorders (common types) Correct Answers -
trisomy 21 (Down syndrome)--> 47= X,Y + 21
-trisomy 18 (Edwards syndrome)--> 47= X,Y + 18
-Cri-du-chat--> 46= X,Y - 5p
Chromosomal X-Y disorders Correct Answers turner's
syndrome & klinefelter's
Components of a genetic assessment Correct Answers -
Assessment of genetic risk and prognosis
-Detailed family history
-Pregnancy history
-Detailed accounts of birth process
-Accounts of postnatal health and development
-Physical examination of the affected child and family
-Laboratory tests
Congenital disorders Correct Answers -teratogenic agents
-fetal alcohol syndrome
-folic acid deficiency
Criteria for defining FAS Correct Answers -prenatal or
postnatal growth retardation
-weight or length below the 10th percentile
-CNS involvement: neurologic abnormalities, developmental
delays, behavioral dysfunction, intellectual impairment, skull
and brain malformation
DNA organization of chromosomes (how many pairs & types)
Correct Answers 23 pairs of chromosomes (46 total)
