Exam 1 genetic disorders - inheritance type

Down syndrome

extra chromosome 21, nondisjunction or translocation

Edward's syndrome

extra chromosome 18

Patau syndrome

extra chromosome 13

DiGeorge syndrome

22q11.2 deletion

phelan-mcdermid syndrome

22q13 deletion

williams syndrome

missing part of chromosome 7

prader-willi syndrome

deletion of paternal chromosome 15; genomic imprinting

angelman syndrome

deletion on maternal chromesome 15; genomic imprinting

Duchenne muscular dystrophy

x-linked recessive

hemophilia

x-linked recessive

red-green colorblindness

x-linked recessive

menkes syndrome

x-linked recessive

Hypophosphatemic rickets

x-linked dominant

aicardi syndrome

x-linked dominant

incontinentia pigmenti

x-linked dominant

rett syndrome

x-linked dominant

mitochondrial encephelophy lactic acidosis with stroke like episodes (MELAS)

mitochondrial

Myoclonic epilepsy with ragged red fibers (MERRF)

mitochondrial

Leber hereditary optic neuropathy (LHON)

mitochondrial

beckwith-wiedeman syndrome

changes of 11p15.5

Russell-silver syndrome

changes on 11p15.5; chromosome 7

myotonic dystrophy

autosomal dominant

huntingtons disease

autosomal dominant with age dependent penetrance

fragile X syndrome

x-linked; CGG trinucleotide expansion in FMR1

Phenylketonuria (PKU)

autosomal recessive

cystic fibrosis

autosomal recessive

sickle cell

autosomal recessive

retinoblastoma

autosomal dominant with reduced penetrance

neurofibromatosis type 1

autosomal dominant with variable expression

marfan syndrome

autosomal dominant; pleiotropy