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Final Exam MCN 568 Questions and Answers Graded A+
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Exam of 40 pages for the course MCN 568 at MCN 568 (Final Exam MCN 568)
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Final Exam MCN 568These clinical features in the newborn are found in what disorder? meconium ileus,
intestinal atresia and perforations and or prolonged neonatal jaundice – answer CF
Cystic Fibrosis - answer Findings of failure to thrive, chronic cough, recurrent
bronchiolitis, hyperinflation, persistent infiltrates, atelectasis, chronic foul smelling
diarrhea, abdominal distention, persistent vomiting and chronic hypochloremia
metabolic alkalosis are noted in an infant. What might be the associated disorder?
Sweat Test - answer Diagnostic Test for CF
Treatment of CF - answer Antibiotics, bronchodilators, corticosteroids, chest PT,
pancreatic enzymes and fat soluble vitamins
what is the genetic factor of congenital myotonic dystrophy? - answerAutosomal
Dominant
The following clinical features are found in what single-gene disorder? poor sucking,
difficulty swallowing, generalized hypotonia, facial diplegia ( weakness on both sides),
clubfoot, cataracts, ptosis, mental retardation, tent-shaped mouth, gonadal insufficiency,
respiratory failure - answerCongenital myotonic dystrophy
What tests are performed to diagnose congenital myotonic dystrophy - answermuscle
biopsy, serum creatinine kinase, electromyography.
Nerve conduction velocities are normal in what single gene disorder? A) congenital
myotonic disorder B) CF C)OI - answerA) congenital myotonic dystrophy
This disorder has no specific treatment available but physical therapy and orthopedic
measures are indicated - answercongenital myotonic dystrophy
Many die in infancy due to repsiratory failure with this single gene disorder -
answercongenital myotonic dystrophy
Estimated % are autosomal dominant with marked variability in expression -
answerOsteogenesis imperfecta
The following features are consistent with which type of OI? postnatal onset of bone
fragility, blue sclerae, easy bruising, triangular facial appearance - answerType I
,What element in blood serum is reduced in Vitamin D resistant rickets? -
answerphosphate
What vitamins must infants with vitamin D resistant rickets receive in large doses? -
answerVitamin D and oral phosphate
What disorder should be suspected when an infant presents with meconium ileus? -
answerCystic Fibrosis
NTD's, clubfoot, pyloric stenosis, hypospadias and cleft lip and palate all demonstrate
with of the following patterns of inheritance
A) sex linked
B) multifactorial
C) autosomal recessive - answermultifactorial
The most common type of NTD is
A) anencephaly
B) encephalocele
C) myelomeningocele
D) meningocele - answermyelomeningocele
True or False? The higher the spinal lesion, the higher the likelihood of the child being
able to walk with the support of braces - answerFalse
Which vitamin or element should be increased in the diet of a woman who has had an
NTD-related pregnancy? - answerFolic Acid
Name three signs that an infant is developing hydrochephalus - answerincreasing head
circumference, bulging fontanels, irritability
What is the first action a nurse should take for an infant born with NTD? - answercover
the protruding sac
Name 2 clinical signs of pyloric stenosis - answerfeeding problems with non bilious
projectile vomiting
firm non tender and mobile hard pylorus that is 1-2 cm in diameter in RUQ
A protein abnormally that is responsible for chloride transport + leads to thick mucous in
lumens of pancreas lungs, intestines, biliary tract + appendix is the detect in what
describe? - answerCF
An increased risk of behavior problems is associated with which disorder? - answerXYY
Approximately 95% of these syndromes are aborted spontaneously and the female to
male ratio is 3:1? - answerTrisomy 18(Edward)
,Complete trisomy, translocation and mosaic forms are genetic factors of what
syndrome? - answerTrisomy 18(Edwards)
Congenital lymphadema and widely spaced nipples are common in which of the
following disorders?
A. XO(turner) syndrome
B.XXY (Kleinfelter) Synfrome
C. XYY
D.(xxx)triple x syndrome - answerA.Turner
Consanguinity is an important issue in which inheritance pattern? - answerB. Autosomal
recessiue
Genetic Factors of this syndrome include extra chromosome usually arises from non-
disjunction in maternal meiosis I. 20% caused by unbalanced translocation -
answerTrisomy 13(patau)
Hypogonadism + Hypogenitalism are common in which disorder? - answerKlinefetter
In what syndrome are males always infertile - answerDowns
Meiotic error usually is paternal in what syndrome? - answerMonosomy X ( Turner
Syndrome)
Monosomies tend to be more ________ than trisomies - answerdetereterious
Most common chromosomal abnormality? - answerDowns
Most common clinical features of this syndrome include the following:
severe mental deficiency
CHD
cleft lip and palate
holoprosencephaly
microcephaly
coloboma
micropthalmia
apparent deafness
abnormal posturing of fingers
malformed ears - answerTrisomy 13 ( Patau)
Non-Disjunction during meiosis I is the cause for what syndrome? - answerDowns
Normal gametes are composed of ______ chromosomes. Normal human somatic cell
contains ____________ chromosomes - answer23; 46
, One copy of the single gene is all that is required for expression of an? -
answerautosomal dominant trait
Second most common chromosomal abnormality ( 1 in 6-8k births) - answerTrisomy 18-
Edwards syndrome
The following clinical features are most common with what syndrome?
severe mental defiency
CHD
clended hands with overlapping of index finger over 3rd finger and 5th finger over 4th
prominent occiput
narrow palatal arch
abnormal dermatoglyphics
single umbilical arter
short sternum
abnormal posture with flexion deformities - answerTrisomy 18- Edwards
The following clinical features are common with what syndrome?
hypotonia
flattened facial profile
poor moro reflex
hyperflexibility of joints
excessive skin on back of neck
slanted palpebral fissures
dysplasia of pelvis
simean crease
CHD - answerDown Syndrome
These traits are never transmitted from father to son; two answers - answerx-linked
dominant
x-linked recessive
True or False: cystic fibrosis is autosomal recessive - answerTrue
True or False: Females with Turner syndrome are infertile - answerTrue
what syndrome is also called cry of the cat syndrome? - answerCri Du Chat
What is the only monosomy that is viable - answerMonosomy X- Turner syndrome
What is mutation in genetics - answerpermanent hereditary change in the sequence of
the DNA
What is the science of human biologic variation? - answergenetics
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