3rd March 2024

Non-mendelian

We will provide a few common genetic conditions that may come up during the MRCP examination that does not display the typical Mendelian inheritance, including chromosomal abnormalities. Examples include:


Prader-Willi syndrome	Angelman syndrome
Turner syndrome	Klinefelter’s syndrome
Patau’s syndrome	Edward’s syndrome
Down’s syndrome	DiGeorge’s syndrome
MELAS	MERRF
NARP	Leber’s hereditary optic neuropathy
Chronic progressive external ophthalmoplegia	Pearson syndrome

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