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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