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Table 1 Genes locate at six gains and two losses of the rearranged 1q in our patient

From: Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis

Start site (bp) End site (bp) Size (Kb) RefSeq genes OMIM genes Disease genes Autosomal recessive disease genes Autosomal dominant disease genes
Six gains
 166,154,922 172,866,584 6712 132 45 12 CD247, TBX19, SLC19A2, F5, GORAB, PRRX1, FMO3, PIGC ADCY10, F5, PRRX1, MYOC, EEF1AKNMT, FASLG
 172,866,607 175,081,899 2215 51 14 3 DARS2, SERPINC1, MRPS14 SERPINC1
 182,416,826 186,739,165 4322 68 27 5 LAMC2, NCF2, TSEN15, PRG4 HMCN1
 192,473,950 192,827,064 353 7 3 0   
 192,827,141 192,831,551 4 0 0 0   
 195,717,189 195,784,837 68 0 0 0   
Two losses
 195,857,632 195,906,366 49 0 0 0   
 229,372,123 229,387,971 16 1 0 0   
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Molecular Cytogenetics

ISSN: 1755-8166