Question:
Match items in List-I with the items in List-II:
Match items in List-I with the items in List-II:
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Remember autosomal trisomies in ascending numerical order of chromosomes:
Patau (Chromosome 13) $\rightarrow$ Edward (Chromosome 18) $\rightarrow$ Down (Chromosome 21).
Cri-du-chat is a structural deletion of the short arm of chromosome 5 ($5p^-$).
Patau (Chromosome 13) $\rightarrow$ Edward (Chromosome 18) $\rightarrow$ Down (Chromosome 21).
Cri-du-chat is a structural deletion of the short arm of chromosome 5 ($5p^-$).
Updated On: Sep 4, 2026
- (A) - (I), (B) - (II), (C) - (III), (D) - (IV)
- (A) - (I), (B) - (III), (C) - (II), (D) - (IV)
- (A) - (I), (B) - (II), (C) - (IV), (D) - (III)
- (A) - (III), (B) - (IV), (C) - (I), (D) - (II)
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The Correct Option is C
Solution and Explanation
Concept:
Human cytogenetics investigates structural and numerical chromosomal aberrations in human populations.
Aneuploidy refers to an abnormal number of chromosomes resulting from non-disjunction during meiotic cell division.
This question tests the correlation between clinically recognized syndromes and their specific karyotypic chromosomal anomalies.
Step 1: Identifying Autosomal Trisomies:
1. Patau Syndrome (Trisomy 13): Caused by an extra copy of chromosome 13, leading to severe anatomical defects such as microcephaly, cleft palate, and polydactyly. Thus, (A) pairs with (I).
2. Edward Syndrome (Trisomy 18): Caused by the presence of an extra chromosome 18, characterized by rocker-bottom feet, clenched fists, low-set ears, and severe mental retardation. Thus, (B) pairs with (II).
3. Down Syndrome (Trisomy 21): First clinically described by Langdon Down in 1866, it is the most prevalent autosomal aneuploidy resulting from an additional chromosome 21, showing epicanthic folds and simian crease. Thus, (C) pairs with (IV).
Step 2: Identifying Structural Chromosomal Deletions:
Cri-du-chat Syndrome (5p- Syndrome): This condition results from a partial terminal or interstitial deletion of the short arm (p arm) of chromosome 5 ($46,XX\text{ or }XY, 5p^-$).
Infants with this syndrome present with a characteristic high-pitched, cat-like cry along with microcephaly. Thus, (D) pairs with (III).
Step 3: Final Answer:
Synthesizing the correct associations gives:
(A) $\rightarrow$ (I), (B) $\rightarrow$ (II), (C) $\rightarrow$ (IV), (D) $\rightarrow$ (III).
This sequence perfectly matches Option (C).
Human cytogenetics investigates structural and numerical chromosomal aberrations in human populations.
Aneuploidy refers to an abnormal number of chromosomes resulting from non-disjunction during meiotic cell division.
This question tests the correlation between clinically recognized syndromes and their specific karyotypic chromosomal anomalies.
Step 1: Identifying Autosomal Trisomies:
1. Patau Syndrome (Trisomy 13): Caused by an extra copy of chromosome 13, leading to severe anatomical defects such as microcephaly, cleft palate, and polydactyly. Thus, (A) pairs with (I).
2. Edward Syndrome (Trisomy 18): Caused by the presence of an extra chromosome 18, characterized by rocker-bottom feet, clenched fists, low-set ears, and severe mental retardation. Thus, (B) pairs with (II).
3. Down Syndrome (Trisomy 21): First clinically described by Langdon Down in 1866, it is the most prevalent autosomal aneuploidy resulting from an additional chromosome 21, showing epicanthic folds and simian crease. Thus, (C) pairs with (IV).
Step 2: Identifying Structural Chromosomal Deletions:
Cri-du-chat Syndrome (5p- Syndrome): This condition results from a partial terminal or interstitial deletion of the short arm (p arm) of chromosome 5 ($46,XX\text{ or }XY, 5p^-$).
Infants with this syndrome present with a characteristic high-pitched, cat-like cry along with microcephaly. Thus, (D) pairs with (III).
Step 3: Final Answer:
Synthesizing the correct associations gives:
(A) $\rightarrow$ (I), (B) $\rightarrow$ (II), (C) $\rightarrow$ (IV), (D) $\rightarrow$ (III).
This sequence perfectly matches Option (C).
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