Syndromes

Question 1

NF1 pts at risk for

Answer 1

GIST(GI stromal tumor) and Pheo(adrenal gland tumor)

Question 2

Legius Syn

Answer 2

CAL/freckling/macrocephaly no other NF1

Question 3

Marfan location

Answer 3

15q21

Question 4

Congenital contractural arachnodactlyly Gene

Answer 4

FBN2

Question 5

Pallister Killinian Location

Answer 5

i12p

Question 6

Pallister killian Sx

Answer 6

Seizure, ID

Question 7

Pheland Mcdermod sx

Answer 7

seizure / hyptonia

Question 8

CMT location

Answer 8

17p11.

Question 9

Cohen syn sx

Answer 9

retinal dystrophy and DD

Question 10

Bardet Biedel Sx

Answer 10

cone/rod dystrophy, polydactlyly, truncal obesity

Question 11

Optic nerve hypoplasia genes

Answer 11

HESX1, SOX2, SOX3

Question 12

hydrotic ecoderaml dysplasia gene

Answer 12

GJB6

Question 13

Harlequin Sx

Answer 13

thyroid, rheum arthritis

Question 14

Oro facial digital type 1 inhertiance

Answer 14

XLD

Question 15

severity of synostosis

Answer 15

apert>Pfeiffer>jacksonweiss>Crouzon

Question 16

Wardenburg gene

Answer 16

PAX3

Question 17

popliteal pterygium gene/inheritance

Answer 17

IRF6 + AD

Question 18

SMA screen ACOG ACMG

Answer 18

NO Yes

Question 19

Allen Herdon Dudley syndrome sx

Answer 19

thyroid dysfunction

Question 20

Beta thal elctrophoresis finidings

Answer 20

High A2 or F

Question 21

Alpha thal carrier findings

Answer 21

Normal electrophoresis

Question 22

Sickle cell change

Answer 22

G>V substitution in Beta globin chain (missense)

Question 23

XY sex reversal gene

Answer 23

SOX9

Question 24

SOX9 location

Answer 24

SRY on Y

Question 25

FraX grey zonme

Answer 25

45-59

Question 26

FraX premutation

Answer 26

60-199

Question 27

bardet biedel

Answer 27

obesity, polydac,renal,rod cone dystr

Question 28

Freidreichs repeats

Answer 28

34-65 is pre, 66-1700 dz

Question 29

CanavanSx

Answer 29

high NAA (N-acetyl aspartic acid) demylinates brain

Question 30

Alpers =

Answer 30

POLG