Table 2. Cytogenetic characterisation of the 6q16 deletions in our 15 patients.
| Patient | Decipher ID | Description using HGVS recommendations | ISCN description (hg19) | Deletion size (Mb) | Inheritance | Parental origin of the deleted chromosome |
|---|---|---|---|---|---|---|
| 1 | 292285 | chr6.hg19:g.(92,103,929_92,138,719)_(106,099,894_106,140,794)del | 6q16.1q21(92,138,719-106,099,894)x1 | 14 | de novo | Not tested |
| 2 | 275133 | chr6.hg19:g.(98,313,927_98,342,090)_(103,457,328_103,493,161)del | 6q16.1q16.3(98,342,090-103,497,328)x1 | 5.11 | de novo | Paternal |
| 3 | 258874 | chr6.hg19:g.(96,233,216_96,246,431)_(101,346,495_101,352,914)del | 6q16.1q16.3(96,246,431-101,346,495)x1 | 5.1 | de novo | Paternal |
| 4 | 253169 | chr6.hg19:g.(97,588,639_97,985,807)_(102,192,907_102,266,317)del | 6q16.1q16.3(97,985,807-102,192,907)x1 | 4.2 | Not tested | Not tested |
| 5 | 253170 | chr6.hg19:g.(99,143,426_99,284,234)_(102,931,873_103,179,875)del | 6q16.2q16.3(99,284,234-102,931,873)x1 | 3.64 | de novo | Paternal |
| 6 | 253172 | chr6.hg19:g.(99,143,426_99,284,234)_(102,931,873_103,179,875)del | 6q16.2q16.3(99,284,234-102,931,873)x1 | 3.64 | de novo | Not tested |
| 7 | 260579 | chr6.hg19:g.(96,842,941_96,976,463)_(104,454,191_104,668,815)del | 6q16.1q16.3(96,976,463-104,454,191)x1 | 7.47 | de novo | Paternal |
| 8 | 264111 | chr6.hg19 :g.(98,917,989_98,966,909)_(101,858,360_101,869,595)del | 6q16.2q16.3(98,966,909-101,858,360)x1 | 2.89 | de novo | Paternal |
| 9 | 275474 | chr6.hg19:g.(100,260,987_100,382,250)_(102,582,366_102,772,530)del | 6q16.3(100,382,250-102,582,366)x1 | 2.2 | de novo | Not tested |
| 10 | 292291 | chr6.hg19:g.(93,007,836_93,342,048)_(104,454,191_104,668,815)del | 6q16.1q16.3(93,342,048-104,454,191)x1 | 11 | de novo | Not tested |
| 11 | 268590 | chr6.hg19:g.(100,260,987_100,382,309)_(108,227,875_108,278,822)del | 6q16.1(95,078,973-97,278,982)x1, 6q16.2q16.3(98,621,277-103,179,934)x1 | 7.84 | de novo | Maternal |
| 12a | 291928 | chr6.hg19:g.[(94,292,552_95,078,973)_(97,278,982_97,339,291)del | 6q16.1(95,078,973-97,278,982)x1, 6q16.2q16.3(98,621,277-103,179,934)x1 | 2,2 4.55 | de novo | Not tested |
| 13b | 292355 | chr6.hg19:g.(95,947,049_95,977,796)_(101,469,173_101,526,597)del | 6q16.1q16.3(95,977,796-101,469,173)x1 | 5.49 | de novo | Paternal |
| 14 | 292356 | chr6.hg19:g.(98,798,280_98,905,933)_(100,642,867_100,650,387)del | 6q16.2q16.3(98,905,933-100,642,867)x1 | 1.73 | de novo | Maternal |
| 15 | 291784 | chr6.hg19:g.(96,200,773_96,200,844)_(99,629,252_99,629,407)del | 6q16.1q16.2(96,200,844-99,629,252)x1 | 3.42 | de novo | Paternal |
a
Patient 12 karyotype: 46,XY,t(6;13)(q16.1q21)dn.
b
Additional CNVs for patient 13: 1q44(245,915,431-246,518,362)x1 mat, 4q31.21q31.2(143,272,775-147,915,323)x3 pat, 16p11.2(29,664,529-30,198,600)x3 pat.