Which of the following statements are correct about Klinefelter's Syndrome?
A. This disorder was first described by Langdon Down (1866).
B. Such an individual has overall masculine development. However, the feminine development is also expressed. 
C. The affected individual is short statured.
D. Physical, psychomotor and mental development is retarded.
E. Such individuals are sterile. 
Choose the correct answer from the options given below:
1. A and E only  2. A and B only 
3. C and D only  4. B and E only
Subtopic:  Non - Disjunction & Aneuploidy | Sex Aneuploidy - Turner & Klinefelter Syndrome |
 83%
Level 1: 80%+
NEET - 2023
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Broad palm with single palm crease is visible in a person suffering from-
1.Thalassemia2.Down's syndrome
3.Turner's syndrome4.Klinefelter's syndrome
Subtopic:  Non - Disjunction & Aneuploidy | Sex Aneuploidy - Turner & Klinefelter Syndrome |
 88%
Level 1: 80%+
NEET - 2023
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Match List-I with List-II

List-I List-II
(a) Haemophilia (i) Inborn error of metabolism which lacks an enzyme that converts phenylalanine into tyrosine
(b) Down's Syndrome (ii) Sex-linked recessive disorder; a defect in blood coagulation
(c) Phenylketonuria (iii) Presence of additional copy of X-chromosome  (44+XXY)
(d) Klinefelter's Syndrome (iv) Additional copy of chromosome number 21

Choose  the correct answer from the options given below:

(a) (b) (c) (d)
1. (ii) (iv) (i) (iii)
2. (iv) (ii) (i) (iii)
3. (ii) (iii) (i) (iv)
4 (i) (ii) (iii) (iv)
Subtopic:  Mendelian Disorders | Non - Disjunction & Aneuploidy | Sex Aneuploidy - Turner & Klinefelter Syndrome |
 88%
Level 1: 80%+
NEET - 2022
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If a female individual is with small round head, furrowed tongue, partially open mouth and broad palm with characteristic palm crease. Also the physical, psychomotor and mental development is retarded. The karyotype analysis of such an individual will show :
1. 47 chromosomes with XXY sex chromosomes
2. 45 chromosomes with XO sex chromosomes
3. 47 chromosomes with XYY sex chromosomes
4. Trisomy of chromosome 21
Subtopic:  Non - Disjunction & Aneuploidy |
 86%
Level 1: 80%+
NEET - 2022
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Pick out the correct statements:
I:  Haemophilia is a sex-linked recessive disease. 
II:  Down’s syndrome is due to aneuploidy. 
III:  Phenylketonuria is an autosomal recessive gene disorder. 
IV:  Sickle cell anaemia is an X-linked recessive gene disorder
1. II and IV are correct
2. I, III and IV are correct
3. I, II and III are correct
4. I and IV are correct
Subtopic:  Mendelian Disorders: Sickle Cell Anemia | Mendelian Disorders | Mendelian Disorders: Hemophilia | Non - Disjunction & Aneuploidy |
 81%
Level 1: 80%+
NEET - 2016
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A cell at the telophase stage is observed by a student in a plant brought from the field. He tells his teacher that this cell is not like other cells at the telophase stage. There is no formation of a cell plate and thus the cell is containing more chromosomes as compared to other dividing cells. This would result in:

1. polyploidy

2. somaclonal variation

3. polyteny

4. aneuploidy

Subtopic:  Non - Disjunction & Aneuploidy |
 81%
Level 1: 80%+
NEET - 2016
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A woman with 47 chromosomes, due to three copies of chromosome 21, is characterized by:

1. Turner syndrome 2. Down syndrome
3. Superfemaleness 4. Triploidy
Subtopic:  Non - Disjunction & Aneuploidy |
 83%
Level 1: 80%+
AIPMT - 2005
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Which of the following is the correct match:

1. Down Syndrome = 21st Chromosome

2. Sickel cell anaemia = X – Chromosome

3. Haemophilia = Y – Chromosome

4. Parkinson Disease = X & Y Chromosomes

Subtopic:  Non - Disjunction & Aneuploidy |
 91%
Level 1: 80%+
AIPMT - 2002
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Mangolian idiots are due to trisomy in the 21st chromosome is called:

1. Down's syndrome

2. Turner's syndrome

3. Kleinfelters syndrome

4. Triplex syndrome

Subtopic:  Non - Disjunction & Aneuploidy |
 94%
Level 1: 80%+
AIPMT - 2000
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Reason for trisomy in Down's syndrome is:
1.  Non-disjunction during sperm formation
2.  Non-disjunction during egg formation
3.  Non-disjunction at the time of egg or sperm formation
4.  Addition of one extra chromosome during mitosis

Subtopic:  Non - Disjunction & Aneuploidy |
Level 3: 35%-60%
AIPMT - 1998
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