These clinical features in the newborn are found in what disorder? meconium ileus, intestinal atresia and perforations and or prolonged neonatal jaundice correct answers CF
Cystic Fibrosis correct answers Findings of failure to thrive, chronic cough, recurrent bronchiolitis, hyperinflation, pe...
These clinical features in the newborn are found in what disorder? meconium ileus,
intestinal atresia and perforations and or prolonged neonatal jaundice correct answers
CF
Cystic Fibrosis correct 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 correct answers Diagnostic Test for CF
Treatment of CF correct answers Antibiotics, bronchodilators, corticosteroids, chest PT,
pancreatic enzymes and fat soluble vitamins
what is the genetic factor of congenital myotonic dystrophy? correct 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 correct answers Congenital myotonic dystrophy
What tests are performed to diagnose congenital myotonic dystrophy correct 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 correct answers A) congenital myotonic dystrophy
This disorder has no specific treatment available but physical therapy and orthopedic
measures are indicated correct answers congenital myotonic dystrophy
Many die in infancy due to repsiratory failure with this single gene disorder correct
answers congenital myotonic dystrophy
Estimated % are autosomal dominant with marked variability in expression correct
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 correct answers Type
I
,What element in blood serum is reduced in Vitamin D resistant rickets? correct answers
phosphate
What vitamins must infants with vitamin D resistant rickets receive in large doses?
correct answers Vitamin D and oral phosphate
What disorder should be suspected when an infant presents with meconium ileus?
correct answers Cystic 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 correct answers multifactorial
The most common type of NTD is
A) anencephaly
B) encephalocele
C) myelomeningocele
D) meningocele correct answers myelomeningocele
True or False? The higher the spinal lesion, the higher the likelihood of the child being
able to walk with the support of braces correct answers False
Which vitamin or element should be increased in the diet of a woman who has had an
NTD-related pregnancy? correct answers Folic Acid
Name three signs that an infant is developing hydrochephalus correct answers
increasing head circumference, bulging fontanels, irritability
What is the first action a nurse should take for an infant born with NTD? correct
answers cover the protruding sac
Name 2 clinical signs of pyloric stenosis correct answers feeding 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? correct answers CF
An increased risk of behavior problems is associated with which disorder? correct
answers XYY
Approximately 95% of these syndromes are aborted spontaneously and the female to
male ratio is 3:1? correct answers Trisomy 18(Edward)
,Complete trisomy, translocation and mosaic forms are genetic factors of what
syndrome? correct 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 correct answers A.Turner
Consanguinity is an important issue in which inheritance pattern? correct answers B.
Autosomal recessiue
Genetic Factors of this syndrome include extra chromosome usually arises from non-
disjunction in maternal meiosis I. 20% caused by unbalanced translocation correct
answers Trisomy 13(patau)
Hypogonadism + Hypogenitalism are common in which disorder? correct answers
Klinefetter
In what syndrome are males always infertile correct answers Downs
Meiotic error usually is paternal in what syndrome? correct answers Monosomy X
( Turner Syndrome)
Monosomies tend to be more ________ than trisomies correct answers detereterious
Most common chromosomal abnormality? correct answers Downs
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 correct answers Trisomy 13 ( Patau)
Non-Disjunction during meiosis I is the cause for what syndrome? correct answers
Downs
, Normal gametes are composed of ______ chromosomes. Normal human somatic cell
contains ____________ chromosomes correct answers 23; 46
One copy of the single gene is all that is required for expression of an? correct answers
autosomal dominant trait
Second most common chromosomal abnormality ( 1 in 6-8k births) correct answers
Trisomy 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 correct answers Trisomy 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 correct answers Down Syndrome
These traits are never transmitted from father to son; two answers correct answers x-
linked dominant
x-linked recessive
True or False: cystic fibrosis is autosomal recessive correct answers True
True or False: Females with Turner syndrome are infertile correct answers True
what syndrome is also called cry of the cat syndrome? correct answers Cri Du Chat
What is the only monosomy that is viable correct answers Monosomy X- Turner
syndrome
What is mutation in genetics correct answers permanent hereditary change in the
sequence of the DNA
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