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Table 1 List of chromosomal rearrangements detected in the proband through single nucleotide polymorphism array analysis

From: Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer

Chromosomal region CN state Known genes present in the indicated chromosomal region III.2 Proband’s CRC tissue II.1 Father’s blood sample II.2 Mother’s blood sample II.3 Aunt’s blood sample III.3 Cousin’s blood sample
1p36.22a 3 SPSB1     
1q44 1 OR2T29, OR2T34, OR2T10, OR2T11    
4q13.2a 3  
5q15 1     
5q35.3a 3 BTNL8, BTNL3     
8q24.23 1    
10q21.3a 1 CTNNA3     
12p13.2a 3 PRH1-PRR4, TAS2R43     
14q32.33a 3 MIR8071-2, MIR8071-1, ELK2AP, IGHG1 , FLJ00385, IGHD, MIR4507, MIR4538, MIR4537, MIR4539, KIAA0125, ADAM6, LINC00226
14q32.33a 3    
17q21.31 3 KANSL1, KANSL1-AS1   
22q11.22a 3 MIR650 , MIR5571, IGLL5
Xp22.33a 3 CRLF2    
Xq22.2a 2 H2BFWT, H2BFM     
  1. Genes highlighted in bold have been shown to be relevant to cancer development
  2. CN, copy number (State 1 indicates copy number loss; State 2 or 3 indicates copy number gain); CRC colorectal cancer; SPSB1, splA/ryanodine receptor domain and SOCS box-containing 1; OR2T29, olfactory receptor family 2 subfamily T member 29; OR2T, olfactory receptor family 2 subfamily T members; BTNL8, butyrophilin like 8; BTNL3, butyrophilin like 3; CTNNA3, cathenin alpha 3; PRH1-PRR4, PRH1-PRR4 readthrough; TAS2R43, taste 2 receptor member 43; MIR8071-2; MIR8071-1; ELK2AP, ELK2A, member of ETS oncogene family, pseudogene; IGHG1, immunoglobulin heavy constant gamma 1; FLJ00385/IGHM, immunoglobulin heavy constant mu; IGHD, immunoglobulin heavy constant delta; KIAA0125; MIR4507; MIR4538; MIR4537; MIR4539; ADAM6, ADAM metallopeptidase domain 6 (pseudogene); LINC00226, long intergenic non-protein coding RNA 22; KANSL1, KAT8 regulatory NSL complex subunit 1; KANSL1-AS1, KANSL1 antisense RNA 1; MIR650; MIR5571; IGLL5, immunoglobulin lambda like polypeptide 5; CRLF2, cytokine receptor-like factor 2; H2BFWT, H2B histone family member W testis specific; H2BFM, H2B histone family member M; , no known genes are found
  3. aThe identified copy number variation (CNV) is reported in the database of genomic variants (DGV, with a frequency <1%