Klinefelter Syndrome

Q.

What is gynecomastia what is its cause during neonatal period and during puberty

Q.

What are examples of aneuploidy?

Q.

Allosomic trisomy condition is seen In

Q.

A woman heterozygous for color blindness marries a color blind man. What will be the ratios of carrier daughters, color blind daughters, normal sons and color blind sons in F1 generation?

1. 1:2:2:1

2. 2:1:1:2

3. 1:1:1:1

4. 1:1:2:2

Q. Which of the following(s) is/are true for X-linked dominant traits?

1. All daughters of a male who has the trait will also have the trait.
2. The dominant gene is carried on the X chromosome.
3. X-linked dominant traits are found only in females.
4. Sons can have the trait only if their mother also has the trait.

Q.

what are drumsticks (with relations to Neutrophils -WBCs-) and why do Neutrophilh have multi-lobed and twisted nucleus

Q.

What is a multifactorial disorder?

Q. Match the syndromes and chromosomal abnormalities given in columns.

	List I - Syndrome		List II - Chromosomal abnormalities
A	Klinefelter syndrome	p	Trisomy 13
B	Turner's syndrome	q	Trisomy 18
C	Super female	r	44+XXY
D	Patau's syndrome	s	44+XXX
		t	44+XO

1. A- r, B- t, C- s, D- p
   
2. A- p, B- r, C- q, D- t
   
3. A- q, B- p, C- t, D- s
   
4. A- s, B- r, C- t, D- p
   

Q. Match the following

Column Ⅰ	Column Ⅱ
(a) Phenylketonuria	1. Substitution of valine for glutamic acid
(b) Sickle cell anemia	2. Dysfunctional chloride channel
(c) Kartagener’s syndrome	3. Accumulation of an amino acid
(d) Cystic fibrosis	4. Situs Inversus

Choose the correct option:

1. a-3, b-1, c-4, d-2
2. a-2, b-1, c-4, d-3
3. a-3, b-4, c-1, d-2
4. a-4, b-3, c-2, d-1

Q. The number of chromosomes in the karyotype of a person with Klinefelter's syndrome is

1. 46
2. 49
3. 47
4. 43

Q. Mendel failed to produce same results in

1. Hieracium (Hawk week)
2. Mango
3. Drosophila
4. none of the above

Q.

Number of RBCs/mm3 in healthy female is

1. 4.5 – 5.0 million

2. 5.5 – 6.0 million

3. 3.5 – 4.0 million

4. 6.5 – 7.0 million

Q. Study of abnormalities by taken out the amniotic fluid of embryo is called -

1. Laparoscopy
2. Natal endoscopy
3. Amniocentesis
4. Endoscopy

Q. Given below is a pedigree chart showing the inheritance of a certain sex-linked trait in humans. What is the trait traced in the below pedigree chart ?

1. Dominant X-linked
2. Recessive X- linked
3. Dominant Y-linked
4. Recessive Y- linked

Q. Mention any two autosomal genetic disorders with their symptoms.

Q. A male human is heterozygous for autosomal genes A and B and is also hemizygous for the haemophilic gene h. What proportion of his sperms would be abX${}^h$?

1. 1/8
2. 1/32
3. 1/16
4. 1/4

Q. Which of the following is incorrect with respect to pedigree analysis?

1. It helps to understand whether the trait in question is dominant or recessive.
2. It confirms that DNA is the carrier of genetic information.
3. It confirms that the trait is linked to one of the autosomes.
4. It helps to trace the inheritance of a specific trait.

Q. In males, X-linked characters are

1. heterozygous
2. hemizygous
3. non-inherited
4. homozygous

Q. Number of Barr body in XXXX female is

1. 1
2. 2
3. 3
4. 4

Q. Turners syndrome is

1. Case of monosomy
2. case of sterility in females
3. Absence of barr body
4. All the above

Q.

Choose the correct option regarding the Assertion and Reason:

Assertion [A]: Patients having Klinefelter syndrome have higher amounts of estrogen in the body.
Reason [R]: Klinefelter syndrome occurs due to appearance of an extra X chromosome in the human males.

1. Assertion [A] is True and Reason [R] is False.

2. Reason [R] is True and Assertion [A] is False.

3. Assertion [A] is True and Reason [R] is True and is a correct explanation for [A].

4. Assertion [A] is True and Reason [R] is True but is an incorrect explanation to [A].

Q. Due to non-disjunction of chromosomes during spermatogenesis, sperms carry both sex chromosomes (22A + XY) and some sperms do not carry any sex chromosome (22A +O). If these sperms fertilise normal eggs (22A + X), what types of genetic disorders appear among the offsprings?

1. Down's syndrome and Cri-du-chat syndrome
2. Turner's syndrome and Klinefelter's syndrome
3. Down's syndrome and Turner's syndrome
4. Down's syndrome and Klinefelter's syndrome

Q. Which of the disorder is related with the karyotype given?

1. Turner's syndrome
2. Down's syndrome
3. Myotonic dystrophy
4. Cystic fibrosis

Q.

what is the difference between klinefelter and turners syndrome??

Q. Klinefelters syndrome is characterised by a karyotype of

1. XYY
2. XO
3. XXX
4. XXY

Q. Name the disorder, give its karyotype and write the symptoms a human suffers due to monosomy of sex chromosomes.

Q. Albinism is due to nonsynthesis (absence) of melanin on account of absence of

1. melaninase
2. luciferase
3. lysine
4. tyrosinase

Q. What is the genotype of a person having Klinefelter syndrome?

Q.

Any trait that is carried by the Y chromosome can neither be dominant, nor recessive.

1. False

2. True

Q.

During medical investigation, a male child was found to possess an extra X chromosome. What are the symptoms that the child would show later in life? [2]