MRCP Part 1 Genetics


Genetics

Alpha-antitrypsin deficiency

Amniocentesis

An abnormal karyotype

Autosomal dominant inheritance pattern

Autosomal recessive inheritance

Autosomal recessive polycystic renal disease

Birth defect

Café-au-lait spots

Cardiomyopathy and a skin rash

Consanguinity

Contiguous gene syndromes

Cystic fibrosis

Diagnostic techniques

Duchenne muscular dystrophy

Eye abnormalities

Familial cancer syndromes

Fragile X chromosome

Galactosaemia

Gaucher’s Disease

Genetic counselling

Genetic diseases caused by enzyme defects

Genomic imprinting

Glucose-6-phosphate dehydrogenase deficiency

Glycogen storage disorders

Huntington's disease

Inheritance in cystic fibrosis

Inheritance patterns

Inherited cancers

Inherited diabetes syndromes

Mechanisms of ageing

Mitochondrial genome

MODY

Monozygotic twins

Mutations in thalassaemia

Neurodegenerative genetic disorders

Neurofibromatosis-1

Night blindness and pigmented retina

Pattern of inheritance - X-linked traits

Peutz-Jegher's syndrome

Phenylketonuria

Prion disease

Protruding tongue

Raised maternal serum AFP

Retinoic acid intake and pregnancy

Sensorineural deafness

Single gene disorders

Teratogens in pregnancy

The mitochondrial genome

Trinucleotide repeat disorders

Trisomy 13

Trisomy 18

Trisomy 21

Turner syndrome

X-linked dominant disorders

X-linked recessive diseases

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