Syndromes Flashcards by Andrew McCarty | Brainscape

Q

NF1 pts at risk for

A

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

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Q

Legius Syn

A

CAL/freckling/macrocephaly no other NF1

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Q

Marfan location

A

15q21

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Q

Congenital contractural arachnodactlyly Gene

A

FBN2

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Q

Pallister Killinian Location

A

i12p

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Q

Pallister killian Sx

A

Seizure, ID

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Q

Pheland Mcdermod sx

A

seizure / hyptonia

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Q

CMT location

A

17p11.

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Q

Cohen syn sx

A

retinal dystrophy and DD

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Q

Bardet Biedel Sx

A

cone/rod dystrophy, polydactlyly, truncal obesity

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Q

Optic nerve hypoplasia genes

A

HESX1, SOX2, SOX3

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Q

hydrotic ecoderaml dysplasia gene

A

GJB6

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Q

Harlequin Sx

A

thyroid, rheum arthritis

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Q

Oro facial digital type 1 inhertiance

A

XLD

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Q

severity of synostosis

A

apert>Pfeiffer>jacksonweiss>Crouzon

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Q

Wardenburg gene

A

PAX3

Q

popliteal pterygium gene/inheritance

A

IRF6 + AD

Q

SMA screen ACOG ACMG

A

NO Yes

Q

Allen Herdon Dudley syndrome sx

A

thyroid dysfunction

Q

Beta thal elctrophoresis finidings

A

High A2 or F

Q

Alpha thal carrier findings

A

Normal electrophoresis

Q

Sickle cell change

A

G>V substitution in Beta globin chain (missense)

Q

XY sex reversal gene

A

SOX9

Q

SOX9 location

A

SRY on Y

Q

FraX grey zonme

A

45-59

Q

FraX premutation

A

60-199

Q

bardet biedel

A

obesity, polydac,renal,rod cone dystr

Q

Freidreichs repeats

A

34-65 is pre, 66-1700 dz

Q

CanavanSx

A

high NAA (N-acetyl aspartic acid) demylinates brain

Q

Alpers =

A

POLG