Chapter 12 - Clinical correlations

Question 1

Wolf-Hirschorn Syndrome

Answer 1

deletion 4p ( 4p16.3)

Question 2

Cri du Chat Syndrome

Answer 2

Deletion 5p

Question 3

Williams(-Beuren) Syndrome

Answer 3

7q11.23 deletion

Question 4

Smith-Magenis Syndrome

Answer 4

17p11.2 deletion

Question 5

Angelman Syndrome

Answer 5

15q11.2 (maternal deletion in 2/3 cases)

Question 6

Prader-Willi Syndrome

Answer 6

15q11.2 (Paternal deletion in 2/3 cases)

Question 7

DiGeorge Syndrome

Answer 7

22q11.2 deletion

Question 8

Most common trisomy (including abortuses)

Answer 8

trisomy 16

Question 9

Trisomies most often found in live births

Answer 9

13, 18, 21

Question 10

What is the most likely outcome of prenatally detected mosaic trisomy 20?

Answer 10

normal baby

Question 11

What trisomy includes these symptoms: “rocker-bottom” feet, heart abnormalities, low set misshapen ears, severe mental retardation

Answer 11

trisomy 18

Question 12

A “greek warrior helmet” appearance is characteristic of which deletion syndrome?

Answer 12

Del(4p) Wolf-Hirschorn

Question 13

Pallister-mosaic syndrome

Answer 13

triplication 12p

Question 14

Phenotype: Hypercalcemia, elfin features, kidney abnormalities, heart problems, severe - moderate intellectual disability

Answer 14

Williams syndrome

Question 15

CATCH22:

• cardiac abnormalities
• abnormal facial features
• t-cell deficit
• cleft palate
• hypocalcemia

Answer 15

DiGeorge Syndrome

Question 16

Smith-Magenis Syndrome phenotype

Answer 16

Brachyldactyly (short fingers/toes), heart defects, renal abnormalities, intellectual delay

Question 17

Phenotype: lissencephaly (smooth brain), severe intellectual delay, prominent forehead, upturned nose

Answer 17

Miller-Dieker Syndrome

Question 18

Miller-Dieker Syndrome

Answer 18

del(17p13.3)

Question 19

Trisomy 13 (aka Patau Syndrome)

Answer 19

heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, cleft lip

Question 20

heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, cleft lip

Answer 20

Trisomy 13

Question 21

Wolf Hirschorn syndrome phenotype

Answer 21

characteristic facial appearance, delayed growth and development, intellectual disability , low muscle tone ( hypotonia ), and seizures .

Question 22

Most common trisomies in CPM

Answer 22

2,3,7,8,16

Question 23

Type I CPM

Answer 23

cytotrophoblast

Question 24

Type II CPM

Answer 24

stroma

Question 25

Type III CPM

Answer 25

trophoblast and stroma