Genetics Flashcards
Bilateral acoustic neuroma
NF 2
Black urine, nails, joints
Alcaptonuria
Inactive X chromosome in Kleinfelter’s syndrome
Barr bodies
MC pediatric muscular dystrophy
Duchenne Muscular Dystrophy
Pseudohypertrophy
Usually due to frameshift mutation, new mutation
Box car ventricles
Huntington’s Disease
Chromosome 4
Brain structure affected by Huntington’s
Caudate nucleus
Leading to “box-car” ventricles
Velocardiofacial syndrome
DiGeorge syndrome
Primary defect in Marfan’s syndrome?
Fibrillin
Defect in adult polycystic kidney disease is found on which chromosome?
Chromosome 16
Hemangioblastoma/cavernous hemangioma of the cerebellum, brainstem, and retina are seen in which condition?
Von-Hippel-Lindau syndrome
Cystic fibrosis is due to defect in which chromsome?
Chromsome 7
Autosomal recessive
What is the chloride sweat test in cystic fibrosis?
> 70 mmol/L
Chromosome involved in FAP?
Chromosome 5
What is the genetic absence of HGPRTase leading to excessive uric acid production?
Lesh-Nyhan Syndrome
X-linked
Leads to MR, self-mutilation, and gout formation
Types of collagen defect in Ehler’s Danlos?
Collagen I and III
Cherry red spot in the macula?
Tay-Sach’s disease
Deficiency in Hexosaminidase
What condition involves an LDL receptor defect leading to xanthomas and early development of atherosclerosis?
Familial hypercholesterolemia
AD
What is Fabry’s disease?
Deficiency in alpha-galactosidase A
X-linked
Accumulation of ceramide trihexoside
What is Gaucher’s disease?
Deficiency in beta-glucocerebrosidase
AR
Accumulation of glucoerebroside
What is Neimann-Pick disease?
Deficient sphingomyelinase
What is deficient in Hurler’s disease?
Alpha-L-iduronidase
With corneal clouding
What is deficient in Hunter’s disease?
Iduronosulfate sulfatase
X-linked, no corneal clouding
What is the most common cardiac defect in Turner’s syndrome?
Coarctation of the aorta
Ash leaf spots are seen on which condition?
Tuberous sclerosis
Hypopigmentation
Shagreen path are seen in which condition?
Tuberous sclerosis
Steinert’s disease is also known as?
Myotonic dystrophy
With frontal bossing and fish mouth
Which condition is associated with Christmas tree cataracts?
Myotonic dystrophy
Huntington’s disease chromosomal defect?
Triple defect of CAG on chromosome 4
Presents with chorea, dementia, and depression
Deficiency associated with DiGeorge syndrome
T cell deficiency
Failure to develop 3rd and 4th pouches
Most common and most serious form of organ involvement in amyloidosis?
Kidneys
Organ involved in senile, systemic amyloidosis?
Heart
2D echo finding in amyloidosis involving the heart?
Sparkling granular appearance
Sago spleen is seen in?
Amyloidosis
Kartagener’s syndrome is a defect in?
Dynein (retrograde)
HLA B27 is associated with which condition?
Reiter’s syndrome
What is seronegative spondyloarthropathy?
Reiter’s syndrome
Defects in Reiter’s syndrome?
Cant see, pee, climb a tree
Anterior uveitis, urethritis, arthritis
Main defect in Wilson’s disease?
Decreased ceruloplasmin
William syndrome is deficiency in which component?
Elastin
Deletion in chromosome 27
Resulting in supravalvular aortic stenosis
Seronegative spondyloarthropathy is associated with which condition?
Ankylosing spondylitis
HLA-B27
