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

aj080620001 — Wed, 18 Nov 2020 10:12:19 +0000

” 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.

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