Which gene/chromosome? Flashcards
Rett syndrome
gene and chromosome
MECP2 gene (Xq28)
Lesch-Nylan syndrome
HPRT gene on X chromosome
angelman/prader willi
15q11
cri du chat
5p
wolf and cat crying about losing 4 and 5p
velocardiofacial (di george)
22q deletion
smith magenis
17p11
wolf hirschhorn
4p
wolf and cat crying about losing 4 and 5p
tuberous sclerosis
9q and 16p
williams
7q11 deletion
klinefelt
extra X 47XXY
jacob’s syndrom
extra Y 47 XYY
coffin-lowry syndrome
xp22
turner
45X0
niemann pick disease
11p15
genes in schizophrenia?
DTNBP1 (dysbindin) - chromosome 6 (6p 22.3)
COMT - chromosome 22
NRG1(neuregulin 1) - chromosome 8 (8p 21-22)
G72 - chromosome 13
RGS4 - chromosome 1
DAOA - chromosome 13
DISC1 - chromosome 1
DRD2 - chromosome 11
COMT is the strongest schizophrenia candidate among approximately 27 genes in a 1.5-3 million nucleotide region of chromosome 22 that is deleted in Velocardiofacial disorder. About 20% of Velocardiofacial disorder patients have schizophrenia or psychosis.