Untitled Presentation

​DOWN SYNDROME :
BEYOND CHROMOSE

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%)

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

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

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%

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)

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

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

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