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
