Table 2 Copy number variation of single alleles in genes of autosomal recessive inheritance pathologies: “carrier status”
From: CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study
OMIM | Syndrome | Chromosomal region | n | del (×1) | dup (×3) |
|---|---|---|---|---|---|
256,100 | Juvenile nephronophthisis | 2q13 | 9 | 9 | |
241,200 | Bartter syndrome 2 | 11q24.3 | 3 | 3 | |
274,270 | Dihydropyrimidine dehydrogenase deficiency | 1p21.3 | 2 | 2 | |
611,432 | hyper-IgE syndrome | 9q24.3 | 2 | 2 | |
116,920 | Leukocyte adhesion deficiency, type I | 21q22.3 | 1 | 1 | |
253,600 | Muscular dystrophy, limb-girdle, type 2 | 15q11.1 | 1 | 1 | |
220,290 | Deafness, autosomal recessive 1A | 13q12.11 | 1 | 1 | |
271,900 | Canavan disease | 17p13.2 | 1 | 1 | |
615,419 | Neuroaxonal neurodegeneration, infantile, with facial dysmorphism | 13q33.1 | 1 | 1 | |
610,356 | Retinal cone dystrophy 3B | 9p24.2 | 1 | 1 | |
231,300 | Primary congenital glaucoma | 2p22.2 | 1 | 1 | |
613,254 | Tuberous sclerosis-2 | 16p13.3 | 1 | 1 | |
613,826 | Leber congenital amaurosis 6 | 14q11.2 | 1 | 1 | |
210,900 | Bloom syndrome | 15q26, | 1 | 1 | |
614,072 | Hermansky-Pudlak syndrome-3 | 3q24 | 1 | 1 | |
609,254 | Senior-Loken syndrome | 3q13.3 | 1 | 1 | |
201,400 | ACTH deficiency | 1q24.2 | 1 | 1 |