Chromosomal location of disorders

Chromosomal location of disorders


Candidates for the MRCPsych need to be able to link genetic conditions to specific chromosomes.

ChromosomeConditions
1Presenilin 2 (Alz), DISC-1 (Scz & BAD), DISC-2 (Scz), RGS-4 (Scz- interacts with neuregulin)
22q- assoc with autistic spectrum disorder
3Nothing
4Huntingdon's Disease (CAG trinucleotide repeat-4p), Wolf-Hirschlorn 4p
5Cri-du Chat (terminal deletion 5p)
6Dysbindin(Scz-6p), PREP (mood disorder 6q)
77q assoc with ASD (autistic spectrum disorder), Williams syndrome (microdeletion)
8Neuregulin-1 (Scz & BAD- 8p)
9Tuberose Sclerosis I
10Nothing
11Brain-Derived Neurotrophic Factor (BAD-rapid cycling 11p)
12Assoc with trait neuroticism
13Patau's syndrome (trisomy), Wilson's disease (ATP7B), DAO-A (Sch & BAD- 11q)
14Presenilin 1 (Alz D)
15Prader-Willi (paternal microdeletion), Angelman's (maternal microdeletion)
16Assoc with ASD (autistic spectrum disorder)-16p, Tuberose Sclerosis II
17Familial frontotemporal dementia, Smith-Magenis-17p, Neurofibromatosis 1 -17q
18Edward's syndrome (trisomy)
19ApoE (Alz & Vasc), Notch 3 (CADASIL), assoc with ASD (autistic spectrum disorder)
20PrP (inherited CJD)
21Amyloid Precursor Protein (Alz), Down's Syndrome (trisomy)
22Neurofibromatosis 2, DiGeorge Syndrome (velocardiofacial), COMT (Scz & BAD)
X/YFragile X, Lesch-Nyan (purines), Turners XO, Klinefelter's XXY