Down’s syndrome most commonly occurs due to –
**Question:** Down's syndrome most commonly occurs due to –
A. Monosomy X
B. Trisomy 21
C. Diabetes mellitus
D. Cardiomyopathy
**Correct Answer:** **B. Trisomy 21**
**Core Concept:**
Down's syndrome is a group of developmental disorders characterized by extra chromosomes, leading to developmental delays and distinct physical features. The condition is named after British physician John Down who first described it in 1866. In Down's syndrome, there is an extra copy of chromosome 21, which results in trisomy 21.
**Why the Correct Answer is Right:**
Trisomy 21, also known as Turner-Wiseman syndrome, is the most common cause of Down's syndrome. It occurs due to the presence of an extra copy of chromosome 21 in affected individuals. This extra chromosome leads to the characteristic features of Down's syndrome, including developmental delays, intellectual disabilities, and distinct physical features such as flat facial features, low set ears, and single palmar crease.
**Why Each Wrong Option is Incorrect:**
A. Monosomy X: This refers to a condition where an individual has only one X chromosome instead of two. It is a condition related to Turner syndrome, not Down's syndrome.
B. Diabetes mellitus: This is a medical condition characterized by high blood sugar levels. It is unrelated to Down's syndrome, which is caused by trisomy 21.
C. Diabetes mellitus: As mentioned above, diabetes mellitus is unrelated to Down's syndrome. Both conditions are distinct disorders with different causes and clinical presentations.
D. Cardiomyopathy: This refers to a heart condition characterized by the enlargement and dysfunction of the heart muscle. It is not the cause of Down's syndrome but rather a potential complication that may occur in affected individuals.
**Clinical Pearl:**
Down's syndrome is a common genetic disorder that primarily affects individuals with an extra chromosome 21. Understanding the underlying cause, trisomy 21, is essential for diagnosing, managing, and providing appropriate care for individuals with Down's syndrome. It is crucial for healthcare professionals to be familiar with the condition to deliver optimal care to patients and families dealing with this condition.