Down’s Syndrome : Definition, Pathogenesis, Symptoms, Treatment And MCQs for NEET, GPAT, CSIR NET JRF

” Down syndrome is a syndrome which is caused due to the trisomy of chromosome no. 21 which leads to total chromosomal count as 47 in a Down syndrome patient.”

1.] Down syndrome was discovered by Langdon Down.

2.] Down syndrome is an chromosomal disorder and is the major cause of mental retardation.

3.] Down syndrome is the most common chromosomal disorder and is the commonest cause of mental retardation.

^{The above image is taken for education purpose only from aboutkidshealth.ca}

PATHOGENESIS :-

The most common cause of trisomy and of Down’s syndrome is meiotic non – disjunction. The parents of such children have a normal karyotype and are normal in all respects. The correlation with maternal age suggests that in most cases the meiotic non – disjunction of chromosome 21 occur in the ovum. In 95% cases of Down’ s syndrome the extra chromosomal material derives from the presence of a Robertsonian translocation of the long arm of chromosome 21 to another arocentric chromosome eg. 22 or 14.

SYMPTOMS :-

Following are the symptoms of Down’s syndrome :

• Mental retardation
• Epicanthic folds and flat facial profile
• Intestinal stenosis
• Umbilical hernia
• Simian crease
• Abundant neck skin
• Congenital heart defects
• Predisposition to leukemia
• Hypotonia
• Gap between first and second toe
• Almond shape eye
• Children suffering from down syndrome has an I.Q. of 40 – 50

^{The above image is taken for education purpose only from verywellhealth.com}

TREATMENT :-

Following are the medication given to the Down Syndrome patient are as follows :

• Codeine
• Acetaminophen

MULTIPLE CHOICE QUESTIONS :-

1.] One of this trait is not seen in person with down syndrome ?

a. High muscle tone

b. Small stature

c. Upward slant eye

d. Short neck

2.] The no. of chromosomes a child with down syndrome has is ?

a. 45

b. 46

c. 47

d. 48

3.] Down syndrome is caused due to ?

a. Bacterial infection

b. A chromosomal abnormality

c. Viral infection

d. Lack of oxygen

4.] Which of this trait is not linked with down syndrome ?

a. Oily skin

b. Hypotonicity

c. Simian crease

d. Brachycephaly

5.] Down syndrome is ?

a. Sex – linked

b.Chromosomal

c. Dominant

d. Recessive

6.] A disease which may result from down syndrome ?

a. Cancer

b. Cellulitis

c. Ciliac disease

d. None of the above

7.] Generally a person with down syndrome has an I.Q. of ?

a. 20 – 30

b. 40 – 50

c. 60 – 70

d. None of the above

8.] The chances of an offspring to have down syndrome with mother’s age ?

a. Decreases

b. Increases

c. Is not influenced

d. There is no correlation

9.] Down syndrome is caused due to ?

a. Trisomy of 21 chromosome

b. Trisomy of 19 chromosome

c. Both (a) and (b)

d. None of the above

10.] Down syndrome was first discovered by ?

a. Langdon Down

b. Albert Einstein

c. Both

d. None of the above

SOLUTIONS :-

1.] (a) High muscle tone

2.] (c) 47

3.] (b) A chromosomal abnormality

4.] (a) Oily skin

5.] (b) Chromosomal

6.] (c) Ciliac disease

7.] (b) 40 – 50

8.] (b) Increases

9.] (a) Trisomy of 21 chromosomes

10.] (a) Langdon Down

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REFERENCES :-

1.] Textbook of Pathology By Harsh Mohan; 7th edition; Page no.253.

2.] Robbin’s Basic Pathology; 5th edition; Page no.154 – 156.