CYTOGENETIC DISORDERS involving sex chromosomes

Question 1

47, XXY

Answer 1

Klinefelter’s Syndrome

Question 2

Tall, do not undergo normal sexual maturation, are sterile, and in some cases have enlargement of the breasts.

Answer 2

Klinefelter’s Syndrome

Question 3

It is a rare chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome.

Answer 3

XYY syndrome

Question 4

Affected individuals are usually very tall. Many experience severe acne during adolescence. Additional symptoms may include learning disabilities and behavioral problems such as impulsivity. Intelligence is usually in the normal range, although IQ is on average 10-15 points lower than siblings.

Answer 4

XYY Syndrome

Question 5

This which do these syndrome belong?
○ 47, XYY
syndrome
○ Jacob’s syndrome
○ XYY karyotype
○ YY syndrome

Answer 5

XYY syndrome

Question 6

45, X

Answer 6

Turner’s syndrome

Question 7

The monosomy of the X chromosome in females is called?

Answer 7

Turner syndrome

Question 8

Phenotypically female but are short in stature and do not exhibit sexual maturation.

Answer 8

Turner’s syndrome

Question 9

This condition is having both male and female reproductive organs?

Answer 9

Hermaphroditism

Question 10

Conditions that involve discrepancies between external genitalia and internal reproductive organs are described by the term?

Answer 10

Intersex

Question 11

Intersex conditions are sometimes referred as?

Answer 11

Disorders of Sexual Development (DDS)

Question 12

This refers to an individual having both ovarian and testicular tissue

Answer 12

True gonadal intersex or True hermaphroditsm

Question 13

The ovarian and testicular tissue may be separate, or the two may be combined. What do you call this?

Answer 13

Ovotestis

Question 14

a condition in which the individual has a single chromosomal and gonadal sex but combines features of both sexes in the external genitalia, causing as to the true sex/

Answer 14

Pseudohermaphroditism

Question 15

refers to an individual with ovaries but with secondary sexual characteristics or external genitalia resembling those of a male.

Answer 15

Female pseudohermaphroditism

Question 16

This is a common cause of female pseudohermaphroditism.

Answer 16

Congenital adrenal hyperplasia / adrenogenital syndrome

Question 17

This refers to individuals whose gonads are testes but whose secondary sexual characteristics or external genitalia resemble those of a female.

Answer 17

Male pseudohermaphroditism