Deja Review - Genetic Pathology I Flashcards
(47 cards)
robertsonian translocation
exchange chromosome
-get one big and one small one
small one often lost
lyonization
formation of barr bodies
down syndrome associations
endocardial cushion defect esophageal atresia brush field spots - white spot border of iris early onset alzheimers ALL and AML
rocker bottom feet, micrognathia, prominent occiput
edwards - trisomy 18
polydactyly, holoprosencephaly, deafness, cleft lip and palate
patau - trisomy 13
association with turner
coarc of aorta
risk of schizophrenia
deletion 22q11
deletion normally active paternal allele on CH15
prader willi
deletion normally active maternal allele on CH15
angelman syndrome
incomplete penetrance
not all individual with genotype show phenotype
marfan genetic
auto dom
huntington genetic
CAG repeat
CH 4
auto dominant
brain with huntington
atrophy caudate, putamen, frontal cortex
osler weber rendu genetic
auto dom
get telangiectasias
hereditary spherocytosis genetic
auto dom
sturger weber genetic
sporadic
ataxia telangiectasia genetic
auto rec
NF1 and NF2 genetic
auto dom
tuberous sclerosis genetic
auto dom
VHL genetic
auto dom
capillary hemangioblastoma of cerebellum, retina, brain stem, SC
VHL
VHL gene
CH 3
achondroplasia genetic
auto dom
mutation FGFR3
homozygous - die
white reflection with red reflex in infant
retionblastoma
auto dom
Rb gene - tumor suppressor CH 13
