Q95 Match the syndromes listed in Column I with the cause/symptoms listed in Column II

Codes:

• (A) P-(ii); Q-(iv); R-(v); S-(iii); T-(i)
• (B) P-(i); Q-(iii); R-(i); S-(v); T-(iv)
• (C) P-(iii); Q-(iv); R-(i); S-(v); T-(ii)
• (D) P-(iv); Q-(v); R-(iii); S-(i); T-(ii)

Matching Syndromes to Their Causes: Prader-Willi, Down, Cushing, Turner, and Fanconi

Prader-Willi syndrome results from a deletion on the paternal chromosome 15q11.2-q13, not cortisol exposure. The correct matching pairs Column I syndromes with Column II causes as follows: P-(ii), Q-(i), R-(iii), S-(iv), T-(v). Option (B) provides this accurate pairing.​

Syndrome Causes

Prader-Willi syndrome arises from loss of paternally expressed genes at 15q11.2-q13 due to paternal deletion (70% of cases), maternal uniparental disomy (25%), or imprinting defects, leading to hypotonia, hyperphagia, and obesity. Down syndrome involves trisomy 21 (extra full or partial chromosome 21 copy), causing intellectual disability and characteristic features, unrelated to renal issues. Cushing syndrome stems from cortisol excess (e.g., pituitary adenoma or corticosteroid use), not chromosome 15 deletion. Turner syndrome results from partial or complete X chromosome monosomy (45,X), leading to short stature and ovarian dysfunction. Fanconi syndrome features inadequate proximal renal tubule reabsorption of bicarbonate, glucose, amino acids, and phosphate.​

Option Analysis

• (A) P-(i), Q-(ii), R-(iv), S-(iii), T-(v): Incorrect; mismatches Prader-Willi (not cortisol-related), Down (not deletion), and others.​

• (B) P-(ii), Q-(i), R-(iii), S-(iv), T-(v): Correct; aligns Prader-Willi with chromosome 15 deletion, Down with renal reabsorption defect? No—wait, Q-Down with (i) inadequate reabsorption? Actually, Fanconi (T) matches (i) precisely, but per table: (i) collection signs due to cortisol? Table: (i) collection of signs/symptoms due to prolonged exposure to corticosteroids like cortisol → that’s Cushing (R? Wait no).

Wait, error in initial: Column II:
(i) collection signs/symptoms due to prolonged exposure to corticosteroids like cortisol → Cushing syndrome (excess cortisol symptoms).
(ii) syndrome of inadequate reabsorption in proximal renal tubule → Fanconi syndrome.​
(iii) deletion of part of chromosome 15 → Prader-Willi.​
(iv) genetic disorder caused by presence of all or part of third copy chromosome 21 → Down syndrome.​
(v) genetic condition in which female has partial or complete missing X chromosome → Turner syndrome.​

Thus matching:
P (Prader-Willi) – (iii)
Q (Down) – (iv)
R (Cushing) – (i)
S (Turner) – (v)
T (Fanconi) – (ii)

Now check options:
(A) P-(i) [cortisol=no], Q-(ii)[renal=no for Down], R-(iv)[21=no], S-(iii)[15=no], T-(?)
Invalid as listed.

From user’s:
(A) P-(i); Q-(ii); R-(iv); S-(iii); T-(?)
But per text: (A) P-(i)-(Q-(ii)-R-(iv)-S-(iii)-T-( ? incomplete, but mismatches.

(B) P-(ii); Q-(i); R-(iii); S-(iv); T-(v)
P(ii) renal? No; Q(i) cortisol for Down? No.

(C) P-(iii); Q-(iv); R-(i); S-(v); T-(ii)
P(iii) deletion 15=yes; Q(iv) 3rd copy 21=yes Down; R(i) cortisol exposure=yes Cushing; S(v) missing X=yes Turner; T(ii) inadequate proximal reabs= yes Fanconi.​

(D) P-(iv); Q-(v); R-(i); S-(ii); T-(iii) Mismatches all.

Correct: (C).​

Prader-Willi syndrome match Column I Column II causes is key for CSIR NET Life Sciences, testing genetic disorders like chromosome deletions and renal tubule defects. This question pairs Prader-Willi (paternal 15q deletion), Down (trisomy 21), Cushing (cortisol excess), Turner (X monosomy), Fanconi (proximal reabsorption failure). Understanding imprinting in Prader-Willi and Fanconi’s proximal tubule dysfunction aids competitive exam success.​

Key Genetic Mechanisms

• Prader-Willi: Paternal 15q11.2-q13 deletion silences genes like SNRPN, causing obesity.​

• Down Syndrome: Third chromosome 21 copy leads to 95% nondisjunction cases.​

• Cushing: Prolonged corticosteroid exposure mimics symptoms.​

• Turner: X chromosome absence affects SHOX gene, short stature.​

• Fanconi: Proximal tubule fails bicarbonate reabsorption, causing acidosis.​

CSIR NET aspirants focus on such match-the-following for molecular biology units.​