MRCP revision

Mnemonics Marfan's syndrome : chromosome 15 (15 alphabates) APKD 1 ( Polycystic kidney ) : chromosome 16 (16 alphabates) Neurofibrom...

Chinese : G6PD deficiency Northern Europeans : cystic fibrosis Ashkenazi Jews : Tay Sachs disease, Gaucher disease Africans : sickle cell...

- mitochondrial diseases are maternally inherited Chronic progressive external ophthalmoplegia (CPEO) - slowly progressive paralysis of e...

- DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) - autosomal recessive - mutation in transmembrane gene, WFS1

- isolated GnRH deficiency - X-linked , resulting from mutation of KAL1 gene which encodes anosmin-1 - occurs in 1:10,000 males - result...

- autosomal dominant - mutation in fibrillin gene (FBN-1) on chromosome 15 (15 alphabates in Marfan's syndrome) - abnormal fibrillin-1...

- maternal in origin - both sexes can be affected Examples - Leber's optic atrophy - MELAS (mitochondrial encephalopathy + lactic ...

- autosomal dominant - mutation in VHL gene (chromosome 3) - features    - cerebellar, brainstem and spinal hemangioblastoma    - retina...

- 47 XXY - most common chromosomal disorder associated with male hypogonadism and infertility - poor sexual development, small or undesc...

- a.k.a Martin-Bell syndrome - X-linked recessive - trinucleotide repeat disorder (in FMR 1 gene)   - genetic anticipation - most common...