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Science
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Professional Development
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Hard
NUR Sofian
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1 Slide • 8 Questions
1
DOWN SYNDROME :
BEYOND CHROMOSE
2
Multiple Choice
Which of the following is the most common type of Down Syndrome?
A. Translocation (4%)
B. Mosaicism (1%)
C. Non-disjunction (95%)
D. Chromosomal deletion (0.5%)
3
Multiple Choice
Transient Abnormal Myelopoiesis (TAM) in Down Syndrome is best described as
A. Chronic leukemia requiring lifelong therapy
B. A benign transient myeloid proliferation resolving within 3 months
C. A lymphoid neoplasm associated with trisomy 18
D. A congenital infection with hepatosplenomegaly
4
Multiple Choice
Which investigation confirms the diagnosis of Transient Abnormal Myelopoiesis (TAM) in a newborn with Down Syndrome?
A. Detection of GATA1 gene mutation
B. Elevated serum bilirubin
C. Bone marrow aspiration showing lymphoblasts
D. Positive Coombs test
5
Multiple Choice
What percentage of neonates with TAM are at risk of progressing to myeloid leukemia associated with Down Syndrome (ML-DS) later in life
A. 2%
B. 5%
C. 10%
D. 25%
6
Multiple Choice
What is the most common cardiac defect seen in newborns with Down Syndrome?
A. Ventricular Septal Defect (VSD)
B. Atrioventricular Septal Defect (AVSD)
C. Patent Ductus Arteriosus (PDA)
D. Tetralogy of Fallot (TOF)
7
Multiple Choice
In Down Syndrome, persistent pulmonary hypertension (PPHN) can occur due to which of the following mechanisms?
A. Increased pulmonary vascular resistance and endothelial dysfunction
B. Decreased systemic vascular resistance
C. Enhanced surfactant production
D. Increased alveolar compliance
8
Multiple Choice
A term neonate with Down Syndrome and an AVSD develops severe hypoxemia unresponsive to 100% oxygen. Pre-ductal SpO₂ is 92%, post-ductal SpO₂ is 82%.
Which mechanism best explains this finding?
A. Right-to-left shunting at atrial level due to low cardiac output
B. Left-to-right shunting through ductus arteriosus
C. Right-to-left shunting via ductus arteriosus due to suprasystemic pulmonary pressures
D. Increased pulmonary venous return
9
Multiple Choice
In neonates with Down Syndrome and PPHN, which molecular pathway contributes to pulmonary vascular remodeling and sustained vasoconstriction?
A. Increased nitric oxide synthase activity
B. Decreased endothelin-1 production
C. Interferon receptor overexpression → reduced NO → upregulated endothelin-1
D. Enhanced prostacyclin signaling
DOWN SYNDROME :
BEYOND CHROMOSE
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