Sex Chromosome Aneuploidy

Question 1

Considered together, are the MC chromosome abnormalities seen in liveborn infants, children, and adults

Answer 1

Sex chromosome abnormalities

Question 2

45,X

Answer 2

Turner syndrome

Question 3

47,XXY

Answer 3

Klinefelter

Question 4

47,XXXY

Answer 4

Klinefelter

Question 5

Condition characterized by complete or partial monosomy of the X chromosome and defined by a combination of phenotypic features

Answer 5

Turner syndrome

Question 6

T/F Maternal age is a predisposing factor for children with 45,X

Answer 6

F

Question 7

SGA, Webbing of neck, protruding ears, lymphedema of hands and feet

Answer 7

Turner

Question 8

Puberty occurs at a normal age but testes remain small

Answer 8

Klinefelter

Question 9

Mental retardation, autistic behavior, macro-orchidism

Answer 9

Fragile X

Question 10

Primary amenorrhea

Answer 10

Turner

Question 11

Lack of secondary female sex characteristics

Answer 11

Turner

Question 12

Involve the RAS-MAPK pathway

Answer 12

Noonan

Question 13

Late secondary male sex characteristics

Answer 13

Klinefelter

Question 14

Long face, large ears, prominent square jaw

Answer 14

Fragile X

Question 15

MC heart defects in Turner syndrome

Answer 15

Bicuspid aortic valves, COA, AS, MVP

Question 16

Gonadal dysgenesis (gonads are streaks of fibrous tissue

Answer 16

Turner

Question 17

T/F Persons with Klinefelter syndrome are phenotypically male

Answer 17

T

Question 18

MCC of hypogonadism and infertility in males

Answer 18

Klinefelter syndrome

Question 19

MC sex chromosome aneuploidy in humans

Answer 19

Klinefelter syndrome

Question 20

T/F Patients with Klinefelter syndrome develop gynecomastia

Answer 20

T, 50%

Question 21

Each additional X chromosome in Klinefelter syndrome reduces the IQ by ___

Answer 21

10-15 points

Question 22

Accounts for 3% of males with mental retardation

Answer 22

Fragile X