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QIO: 1653
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. 1
A baby is born to a 42-year-old mot her. The baby has wide-spaced eyes and epicanthal folds. There is one fewer crease
•2
expected. Eye examination reveals small white spots on th e peripheral iris, and cytogenetic testing shows an extra aut o
·3 chromosome.
• 4
·5 Which of the following is associated with t he pat ient's most likely condition?
·6
·7 A. Acquired cardiac valvular disease
·8 B. Chronic lymphocytic leukemia
•9
C. Duodenal atresia
• 10
D. Pick disease
E. Rocker-bottom feet
8
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1
•2 The correct answ er is c. 66°/o chose this .
·3
The patient in the question has Down syndrome, or t risomy 21. Duodenal atresia, evidenced by the "double
bubble" sign (shown in the image), is associated with Down syndrome.
• 4 Down ~yndrome Duodenal crtres1a Tnsomy Atres1a Duodenum
·5
·6
·7
•9
• 10
Image cop
eta/; licen
Ltd
A is no t correct . 1 2 °/o chose thi s.
Congenital (rather than acquired) cardiac disease is commonly associated with trisomy 21; especially common are end
defects.
EndoCArdl I cuduon5 Conoen1tal d1sorder Tnsomy Down syndrome Cardiovascular disease Endocardium
B is not correct . 11 °/o chose this.
Down svndrome is associated with acute lvmohocvtic leukemia. not chronic lvmohocvtic leukemia.
8
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QID: 1653 J.. Previous Next LAbfaiUI~S Notes Calculator
1 Image cop
•2 eta/; licen
Ltd
•3
•4 A is not co rrect . 1 2% chose this .
. 5 Congenital (rather than acquired) ca rdiac disease is commonly associat ed with t risomy 2 1; especially common are end
.6 defects.
Endocardial cushions Congenital disorder Trisomy Down syndrome Cardiovascular disease Endocardium
• 7
•8 B is not correct. 11 % chose this .
•9 Down syndrome is associat ed with acute lymphocyt ic leukemia, not ch ron ic lymphocyt ic leukemia .
Down syndrome Acute lymphoblastic leukemia 6-cell chronic lymphocytic leukemia Leukemia
. 10
D is not correct. 3°/o chose t his.
The brains of patients with Down syndrome have changes similar to those of Alzheimer disease, not Pick disease, after
Down syndrome Alzheimer's disease
E is not correct. 8°/o chose this .
Rocker-bottom feet are cha racterist ic of t risomy 18 ( Edwards syndrome) and t risomy 13 ( Pat au syndrome).
Rocker bottom foot Patau syndrome Edwards syndrome Trisomy
Bottom Line :
Down synd rome (t risomy 2 1) results in infants with wide-spaced eyes and epicant hal fo lds. Its incidence is highest in
maternal age. Down syndrome has many associat ed comorbidit ies, includ ing duodenal at resia and endocardial cushion
Endocardial cushions Down syndrome Duodenal atresia Advanced maternal age Trisomy Atresia Duodenum Comorbidity Epicanthic fold
141;fil·1i•J
FIRS T AID FACTS
for yea r:[2017 •
Autosomal trisomies
8
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QIO: 1653
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1
•2
Autosomal trisomies
·3
• 4 Down syndrome Findings: intellectual disabilit), Aat facies, Incidence I:700.
·5 (trisomy 21) prominent epicanthal folds, single palmar Drinking age (21).
·6 crease, gap between 1st 2 toes, duodenal 'vlost common viable chromosomal
·7 atresia, Hirschsprung disease, congenital heart most common cause of genetic in
·8 disease (eg, atrio,·entricular septal defect), disabilitr
•9 Brushfield spots. Associated with early-onset First-trimester ultrasound common
• 10
Alzheimer disease (chromosome 21 codes for t nuchal translucency and hypopl
amyloid precursor protein) and t risk of ALL bone; ! serum PAPP-A, t free ~-h
and 1L. Second-trimester quad screen show
95% of cases due to meiotic nondisjunction ! a-fetoprotein, t ~-hCC, ! estrio
(t with advanced maternal age; from 1:1500 in t inhibin .
women< 20 to 1:25 in women> 45 years old).
4% of cases due to unbalanced Robertson ian
translocation, most typically between
chromosomes 14 and 21. 1% of cases due
to mosaicism (no association with maternal
nond isjunction; postfcrtil izat ion mitol ic error).
Edwards syndrome Findings: PRIJ'\CE Edward- Prominent Incidence I:8000.
(trisomy 18) occiput, Rocker-bottom feet, lntelleclua I Election age (18).
disability, ~ondi sjun cti on , Clenched fi sts 2nd most common autosomaltrisom
('' ith O\'erlapping fingers), low-set l•,ars, in li\ e birth (most common is Do''
micrognathia (small jaw), congenital hea rt PAPP-A and free f3-hCC are l in fi r
8
Lode.
QIO: 1653
- ,•
~
Mark -<J
P~v•ous
[:::>
N@xt Labl
"'I
lues
~ ·
Notes
~
Calculator
. 1
A baby is born to a 42-year-old mot her. The baby has wide-spaced eyes and epicanthal folds. There is one fewer crease
•2
expected. Eye examination reveals small white spots on th e peripheral iris, and cytogenetic testing shows an extra aut o
·3 chromosome.
• 4
·5 Which of the following is associated with t he pat ient's most likely condition?
·6
·7 A. Acquired cardiac valvular disease
·8 B. Chronic lymphocytic leukemia
•9
C. Duodenal atresia
• 10
D. Pick disease
E. Rocker-bottom feet
8
Lode.
, Item: 1 of 10
QIO: 1653
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~
Mark -<J
P~v•ous
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N@xt Labl
"'I
lues
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Notes
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Calculator
1
•2 The correct answ er is c. 66°/o chose this .
·3
The patient in the question has Down syndrome, or t risomy 21. Duodenal atresia, evidenced by the "double
bubble" sign (shown in the image), is associated with Down syndrome.
• 4 Down ~yndrome Duodenal crtres1a Tnsomy Atres1a Duodenum
·5
·6
·7
•9
• 10
Image cop
eta/; licen
Ltd
A is no t correct . 1 2 °/o chose thi s.
Congenital (rather than acquired) cardiac disease is commonly associated with trisomy 21; especially common are end
defects.
EndoCArdl I cuduon5 Conoen1tal d1sorder Tnsomy Down syndrome Cardiovascular disease Endocardium
B is not correct . 11 °/o chose this.
Down svndrome is associated with acute lvmohocvtic leukemia. not chronic lvmohocvtic leukemia.
8
Lode.
, Item: 1 of 10 ~ ,• Mark <::J [:::> ""I ~· ~'j
QID: 1653 J.. Previous Next LAbfaiUI~S Notes Calculator
1 Image cop
•2 eta/; licen
Ltd
•3
•4 A is not co rrect . 1 2% chose this .
. 5 Congenital (rather than acquired) ca rdiac disease is commonly associat ed with t risomy 2 1; especially common are end
.6 defects.
Endocardial cushions Congenital disorder Trisomy Down syndrome Cardiovascular disease Endocardium
• 7
•8 B is not correct. 11 % chose this .
•9 Down syndrome is associat ed with acute lymphocyt ic leukemia, not ch ron ic lymphocyt ic leukemia .
Down syndrome Acute lymphoblastic leukemia 6-cell chronic lymphocytic leukemia Leukemia
. 10
D is not correct. 3°/o chose t his.
The brains of patients with Down syndrome have changes similar to those of Alzheimer disease, not Pick disease, after
Down syndrome Alzheimer's disease
E is not correct. 8°/o chose this .
Rocker-bottom feet are cha racterist ic of t risomy 18 ( Edwards syndrome) and t risomy 13 ( Pat au syndrome).
Rocker bottom foot Patau syndrome Edwards syndrome Trisomy
Bottom Line :
Down synd rome (t risomy 2 1) results in infants with wide-spaced eyes and epicant hal fo lds. Its incidence is highest in
maternal age. Down syndrome has many associat ed comorbidit ies, includ ing duodenal at resia and endocardial cushion
Endocardial cushions Down syndrome Duodenal atresia Advanced maternal age Trisomy Atresia Duodenum Comorbidity Epicanthic fold
141;fil·1i•J
FIRS T AID FACTS
for yea r:[2017 •
Autosomal trisomies
8
Lock
, Item: 1 of 10
QIO: 1653
- ,•
~
Mark -<J
P~v•ous
[:::>
N@xt Labl
"'I
lues
~ ·
Notes
~
Calculator
1
•2
Autosomal trisomies
·3
• 4 Down syndrome Findings: intellectual disabilit), Aat facies, Incidence I:700.
·5 (trisomy 21) prominent epicanthal folds, single palmar Drinking age (21).
·6 crease, gap between 1st 2 toes, duodenal 'vlost common viable chromosomal
·7 atresia, Hirschsprung disease, congenital heart most common cause of genetic in
·8 disease (eg, atrio,·entricular septal defect), disabilitr
•9 Brushfield spots. Associated with early-onset First-trimester ultrasound common
• 10
Alzheimer disease (chromosome 21 codes for t nuchal translucency and hypopl
amyloid precursor protein) and t risk of ALL bone; ! serum PAPP-A, t free ~-h
and 1L. Second-trimester quad screen show
95% of cases due to meiotic nondisjunction ! a-fetoprotein, t ~-hCC, ! estrio
(t with advanced maternal age; from 1:1500 in t inhibin .
women< 20 to 1:25 in women> 45 years old).
4% of cases due to unbalanced Robertson ian
translocation, most typically between
chromosomes 14 and 21. 1% of cases due
to mosaicism (no association with maternal
nond isjunction; postfcrtil izat ion mitol ic error).
Edwards syndrome Findings: PRIJ'\CE Edward- Prominent Incidence I:8000.
(trisomy 18) occiput, Rocker-bottom feet, lntelleclua I Election age (18).
disability, ~ondi sjun cti on , Clenched fi sts 2nd most common autosomaltrisom
('' ith O\'erlapping fingers), low-set l•,ars, in li\ e birth (most common is Do''
micrognathia (small jaw), congenital hea rt PAPP-A and free f3-hCC are l in fi r
8
Lode.
