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MCN 568 FINAL EXAM ()
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MCN 568 FINAL EXAM (2024-2025)An increased risk of behavior problems is associated with which
disorder? - <<<Answers>>>XYY
Approximately 95% of these syndromes are aborted
spontaneously and the female to male ratio is 3:1? -
<<<Answers>>>Trisomy 18(Edward)
Complete trisomy, translocation and mosaic forms are genetic
factors of what syndrome? - <<<Answers>>>Trisomy
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 - <<<Answers>>>A.Turner
Consanguinity is an important issue in which inheritance
pattern? - <<<Answers>>>B. Autosomal recessiue
, MCN 568 FINAL EXAM (2024-2025)
Genetic Factors of this syndrome include extra chromosome
usually arises from non-disjunction in maternal meiosis I. 20%
caused by unbalanced translocation - <<<Answers>>>Trisomy
13(patau)
Hypogonadism + Hypogenitalism are common in which
disorder? - <<<Answers>>>Klinefetter
In what syndrome are males always infertile -
<<<Answers>>>Downs
Meiotic error usually is paternal in what syndrome? -
<<<Answers>>>Monosomy X ( Turner Syndrome)
These clinical features in the newborn are found in what
disorder? meconium ileus, intestinal atresia and perforations and
or prolonged neonatal jaundice - <<<Answers>>>CF
Cystic Fibrosis - <<<Answers>>>Findings of failure to thrive,
chronic cough, recurrent bronchiolitis, hyperinflation, persistent
infiltrates, atelectasis, chronic foul smelling diarrhea, abdominal
distention, persistent vomiting and chronic hypochloremic
metabolic alkalosis are noted in an infant. What might be the
associated disorder?
Sweat Test - <<<Answers>>>Diagnostic Test for CF
, MCN 568 FINAL EXAM (2024-2025)
Treatment of CF - <<<Answers>>>Antibiotics, bronchodilators,
corticosteroids, chest PT, pancreatic enzymes and fat soluble
vitamins
what is the genetic factor of congenital myotonic dystrophy? -
<<<Answers>>>Autosomal 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 - <<<Answers>>>Congenital
myotonic dystrophy
What tests are performed to diagnose congenital myotonic
dystrophy - <<<Answers>>>muscle biopsy, serum creatinine
kinase, electromyography.
Nerve conduction velocities are normal in what single gene
disorder? A) congenital myotonic disorder B) CF C)OI -
<<<Answers>>>A) congenital myotonic dystrophy
, MCN 568 FINAL EXAM (2024-2025)
This disorder has no specific treatment available but physical
therapy and orthopedic measures are indicated -
<<<Answers>>>congenital myotonic dystrophy
Many die in infancy due to repsiratory failure with this single
gene disorder - <<<Answers>>>congenital myotonic dystrophy
Estimated % are autosomal dominant with marked variability in
expression - <<<Answers>>>Osteogenesis imperfecta
The following features are consistent with which type of OI?
postnatal onset of bone fragility, blue sclerae, easy bruising,
triangular facial appearance - <<<Answers>>>Type I
What element in blood serum is reduced in Vitamin D resistant
rickets? - <<<Answers>>>phosphate
What vitamins must infants with vitamin D resistant rickets
receive in large doses? - <<<Answers>>>Vitamin D and oral
phosphate
What disorder should be suspected when an infant presents with
meconium ileus? - <<<Answers>>>Cystic Fibrosis
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