Autosomal Dominant
This disorder involves a mutation in fibrillin-1 and predisposes patients to aortic aneury
What is Marfan syndrome?
This frameshift mutation of dystrophin causes early childhood weakness and Gowers’ sign
What is Duchenne muscular dystrophy?
CGG repeat: intellectual disability, macroorchidism.
What is Fragile X syndrome?
Deficiency of α-galactosidase A.
What is Fabry disease?
Term for one gene influencing multiple phenotypes.
What is pleiotropy?
Café-au-lait spots, Lisch nodules, and neurofibromas define this AD disorder.
What is Neurofibromatosis type 1?
A deficiency of factor VIII leading to prolonged aPTT.
What is Hemophilia A?
CAG repeat: chorea and cognitive decline.
What is Huntington disease?
Deficiency of iduronate sulfatase; XR mucopolysaccharidosis.
What is Hunter syndrome?
Chromosomal finding in Prader–Willi and Angelman syndromes.
What is imprinting?
This AD disorder, caused by a gain-of-function mutation in FGFR3, leads to short limbs.
What is Achondroplasia?
HGPRT deficiency leads to self-mutilation and gout in this XR disorder.
What is Lesch–Nyhan syndrome?
CTG repeat: myotonia, cataracts, early balding.
What is Myotonic dystrophy?
Galactose-1-phosphate uridyltransferase deficiency.
What is Classic galactosemia?
Loss of heterozygosity is a hallmark of this tumor suppressor gene.
What is the Rb gene?
Chromosome 4 CAG repeat disorder causing caudate atrophy and chorea.
What is Huntington disease?
This XR lysosomal storage disease involves α-galactosidase A deficiency.
What is Fabry disease?
GAA repeat: spinocerebellar degeneration and diabetes.
What is Friedreich ataxia?
Sphingomyelinase deficiency → cherry-red spot + hepatosplenomegaly.
What is Niemann–Pick disease?
Phenomenon where two different mutations cause the same phenotype.
What is genetic heterogeneity?
A defect in spectrin or ankyrin leads to this hemolytic anemia.
A defect in spectrin or ankyrin leads to this hemolytic anemia.
OTC deficiency presents with hyperammonemia and orotic acid elevation.
What is Ornithine transcarbamylase deficiency?
This phenomenon describes earlier onset in each generation due to repeated expansion
What is anticipation?
Hexosaminidase A deficiency → cherry-red macula WITHOUT hepatosplenomegaly.
What is Tay–Sachs disease?
Non-Mendelian inheritance pattern where affected mitochondria are passed only through the mother
What is mitochondrial inheritance?