CPN Exam Study Guide
Questions & Answers
monosomy - ANSWERSthe loss of one chromosome from a pair; usually rare & fetus is usually
non-viable
trisomy - ANSWERSan addition to a pair of chromosomes; relatively common
autosomal dominant inheritance - ANSWERSchildren of a heterozygous parent have a 50%
chance of possessing the defective gene. children who don't inherit the defective gene will
themselves have unaffected offspring.
examples of autosomal dominant disorders (2) - ANSWERSmarfan syndrome &
neurofibromatosis
autosomal recessive inheritance - ANSWERSchildren of two heterozygous parents have a 25%
chance of being affected. unaffected children have a 50% chance of carrying the gene & possibly
passing it on to their offspring.
examples of autosomal recessive disorders (4) - ANSWERScystic fibrosis, sickle cell anemia, Tay-
Sachs disease, beta-thalassemia major
X-linked dominant inheritance - ANSWERSdaughters of an affected father will probably be
affected. sons will not. half the daughters & half the sons of affected mothers will be affected.
there are no carriers, and normal children themselves will have normal offspring.
examples of x-linked dominant inheritance (2) - ANSWERSfragile X syndrome, Rett syndrome
,X-linked recessive inheritance - ANSWERSmales are usually affected. half the female children of
affected fathers will be carriers and may pass the gene to their offspring.
examples of x-linked recessive disorders (2) - ANSWERSDuchene's muscular dystrophy,
hemophilia A
traditional inheritance patterns account for ___ of genitive disorders. others disorders can be
attributed to gene variation, nontraditional inheritance, and multifactorial disorders. -
ANSWERSonly 1/3
trisomy 13 or Patau's syndrome characteristics (7) - ANSWERS-severe cognitive impairment
-microcephaly w/ abnormalities of forebrain & forehead
-microphthalmia (anatomic eye malformations)
-cleft lip & cleft palate
-low set ears
-cardiac defects
-abnormal genitalia
trisomy 18 or Edwards' syndrome (47XX18+ or 47Xy18+) characteristics (10) - ANSWERS-small
for gestational age
-single umbilical artery
-low set ears
-small jaw
-cardiac defects
-misshapen fingers and toes
-syndactyly (2 or more digits are fused together)
-rocker bottom feet
-renal abnormalities
,-rarely survive past infancy
cri du chat syndrome (46XX5q or 46Xy5q) characteristics (6) - ANSWERS-severe cognitive
impairment
-cat cry
-microcephaly
-wide spaced eyes
-low set ears
-organ malfunctions
turner's syndrome (45XO) characteristics (6) - ANSWERS-short stature
-usually no cognitive impairment
-short, webbed neck
-broad chest w/ widely spaced nipples
-limited ovarian function w/ infertility
-underdeveloped secondary sex characteristics (gonadal dysgenesis)
klinefelter's syndrome (47XXY) characteristics (6) - ANSWERS-mild cognitive delay
-possible gynecomastia
-lack of secondary sex characteristics
-small testicles
-usually infertile
-high risk of breast cancer
fragile x syndrome characteristics (5) - ANSWERS-cognitive impairment
-maladaptive behaviors such as hyperactivity & autism
, -large head, long face w/ prominent jaw & protruding ears
-possibly cardiac disorders
-carrier females possibly showing cognitive & physical characteristics
down syndrome characteristics (25) - ANSWERS-separated sagittal suture
-oblique palpebral fissures
-small, broad flat nose
-depressed nasal bridge
-high arched palate
-skin excess & dryness
-hyperextensible & lax joints
-muscle weakness
-broad hands
-transverse palmar crease
-slow growth w/ rapid weight gain
-delayed or incomplete sexual development
-females possibly fertile
-males infertile
-mild to severe cognitive impairment
-social development possibly 2 to 3 yrs beyond mental age
-associated heart disease
-duodenal atresia
-hirschsprung's disease
-strabismus (crossed eyes)
-cataracts
-hearing loss
Questions & Answers
monosomy - ANSWERSthe loss of one chromosome from a pair; usually rare & fetus is usually
non-viable
trisomy - ANSWERSan addition to a pair of chromosomes; relatively common
autosomal dominant inheritance - ANSWERSchildren of a heterozygous parent have a 50%
chance of possessing the defective gene. children who don't inherit the defective gene will
themselves have unaffected offspring.
examples of autosomal dominant disorders (2) - ANSWERSmarfan syndrome &
neurofibromatosis
autosomal recessive inheritance - ANSWERSchildren of two heterozygous parents have a 25%
chance of being affected. unaffected children have a 50% chance of carrying the gene & possibly
passing it on to their offspring.
examples of autosomal recessive disorders (4) - ANSWERScystic fibrosis, sickle cell anemia, Tay-
Sachs disease, beta-thalassemia major
X-linked dominant inheritance - ANSWERSdaughters of an affected father will probably be
affected. sons will not. half the daughters & half the sons of affected mothers will be affected.
there are no carriers, and normal children themselves will have normal offspring.
examples of x-linked dominant inheritance (2) - ANSWERSfragile X syndrome, Rett syndrome
,X-linked recessive inheritance - ANSWERSmales are usually affected. half the female children of
affected fathers will be carriers and may pass the gene to their offspring.
examples of x-linked recessive disorders (2) - ANSWERSDuchene's muscular dystrophy,
hemophilia A
traditional inheritance patterns account for ___ of genitive disorders. others disorders can be
attributed to gene variation, nontraditional inheritance, and multifactorial disorders. -
ANSWERSonly 1/3
trisomy 13 or Patau's syndrome characteristics (7) - ANSWERS-severe cognitive impairment
-microcephaly w/ abnormalities of forebrain & forehead
-microphthalmia (anatomic eye malformations)
-cleft lip & cleft palate
-low set ears
-cardiac defects
-abnormal genitalia
trisomy 18 or Edwards' syndrome (47XX18+ or 47Xy18+) characteristics (10) - ANSWERS-small
for gestational age
-single umbilical artery
-low set ears
-small jaw
-cardiac defects
-misshapen fingers and toes
-syndactyly (2 or more digits are fused together)
-rocker bottom feet
-renal abnormalities
,-rarely survive past infancy
cri du chat syndrome (46XX5q or 46Xy5q) characteristics (6) - ANSWERS-severe cognitive
impairment
-cat cry
-microcephaly
-wide spaced eyes
-low set ears
-organ malfunctions
turner's syndrome (45XO) characteristics (6) - ANSWERS-short stature
-usually no cognitive impairment
-short, webbed neck
-broad chest w/ widely spaced nipples
-limited ovarian function w/ infertility
-underdeveloped secondary sex characteristics (gonadal dysgenesis)
klinefelter's syndrome (47XXY) characteristics (6) - ANSWERS-mild cognitive delay
-possible gynecomastia
-lack of secondary sex characteristics
-small testicles
-usually infertile
-high risk of breast cancer
fragile x syndrome characteristics (5) - ANSWERS-cognitive impairment
-maladaptive behaviors such as hyperactivity & autism
, -large head, long face w/ prominent jaw & protruding ears
-possibly cardiac disorders
-carrier females possibly showing cognitive & physical characteristics
down syndrome characteristics (25) - ANSWERS-separated sagittal suture
-oblique palpebral fissures
-small, broad flat nose
-depressed nasal bridge
-high arched palate
-skin excess & dryness
-hyperextensible & lax joints
-muscle weakness
-broad hands
-transverse palmar crease
-slow growth w/ rapid weight gain
-delayed or incomplete sexual development
-females possibly fertile
-males infertile
-mild to severe cognitive impairment
-social development possibly 2 to 3 yrs beyond mental age
-associated heart disease
-duodenal atresia
-hirschsprung's disease
-strabismus (crossed eyes)
-cataracts
-hearing loss
