Genetic Conditions

30 cards·by jacksont1

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Trisomy 13

Patau Syndrome

Trisomy 18

Edwards Syndrome

Trisomy 21

Down Syndrome

XXY

Klinefelter

45,X

Turner Syndrome

47 (men)

XYY

47 (women)

XXX

Chromosomal Deletion 22q 11.2

Velo-Cardio - facial

Chromosomal ; defects based on genetic imprinting 1/10000-1/25000 leads to obesity in adulthood; growth hormone may help regulate

Prader Will Syndrome

FREQ; 1/12000-1/20000 ; defective genetic imprinting; tx seizures and supportive care; look at pattern of methylation in critical region //

Angelman Syndrome

Cancer Predeposition Chromosomal/transmitted as a dominant trait --> Microdeletion 1:7500;congenital anomalies; transmit as dom trait ;FISH

Williams Syndrome

PTEN Hamartoma

Cowden Syndrome

Autosomal Dominant ; loss of pten gene function 1/200000/ survey cancer dev.

Cowden Syndrome

Autosomal Dom, RARE, mutation in TP53,50% transmission risk;survey4cancer

Li Fraumeni Syndrome

auto.dom. 1/400,mutation high in pop bc founder affect, screen/surgery//calc risk based on family history

BREAST AND OVARIAN CANCER

aut dom.APC gene mutation; screen gastrointestinal

famial adenomatous polyps

HNPCC /Lynch Syndrome

Hereditary non polyposis colon cancer

AUTO.DOM mismatch repair genes;1/3000,50%risk transmitting/at risk relatives

Lynch Syndrome ; HNPCC

auto.dom; 1/36000;mutation in tumor suppressor/ 50% transmittance/famial /screening

Von Hippel- Lindau

Neurofibromatosis

auto dom, 1/3000-1/25000 50%risk/chromosome 17/screen for tumors

1/6000 autodom50%risk seizures mtor inhibitor

Tuberous Sclerosis

Multiple endocrine Neoplasia

(MEN1,2)

autodom 1/30000 50%transmittance , men1 gene

MEN 1/2

Retinoblastoma

1/15000 rb gene mutation , 50% risk

RARE unknown/ sex linked /primarily affects fe

incontinentia

genetically heterogenous 1/5000-1/10000 founders affect french canadians

ectodermal dysplasia

multiple genes known for various forms of this disease

ectodermal dysplasia

1/60000,high conc in africans

albinism

oculocutaneous albinism

albinism

genetically hetergenous auto recess. /dom 1/30000-1/50000 blisters on skin

epidermolysis bullosa