Table 1 Clinical features observed in patients with duplications at Xp11.22. The genomic coordinates are based on GRCH37/hg19
Reference | Genomic location (chrX) | Size | Origin | ID Growth | Growth delay | Motor delay | Language delay | Facial dysmorphism | Other phenotypes |
|---|---|---|---|---|---|---|---|---|---|
Our family 1 | 53,358,265-53,645,732 | 287 kb | mat | + | – | + | + | – |  |
Our family 2 | 53,428,070-53,992,238 | 564 kb | mat | + | – | + | + | – | ADHD |
Our family 3 | 52,686,671-54,621,465 | 1.9 Mb | mat | + | – | + | + | – | micropenis, small testes, cryptorchidism |
Our family 4 | 52,923,471-55,551,584 | 2.6 Mb | mat | + | – | + | + | – | micropenis, small testes |
DECIPHER 263219 | 53,449,334-53,681,188 | 232 kb | de novo | + | + | + | + | + |  |
DECIPHER 249490 | 51,786,514-55,633,505 | 3.9 Mb | unknown | NR | NR | NR | + | + | micropenis, small testes |
Froyen et al. (2008) FAM3 [7] | 53,384,357-53,723,273 | 339 kb | mat | + | – | NR | + | + | ADHD |
Froyen et al. (2008) P083 [7] | 53,440,734-53,852,372 | 412 kb | unknown | + | – | NR | + | – |  |
Froyen et al. (2008) A057 [7] | 52,987,653-53,713,244 | 726 kb | unknown | + | – | – | + | – | ADHD |
Froyen et al. (2008) A009 [7] | 53,220,275-53,981,275 | 761 kb | mat | + | – | NR | NR | NR |  |
Froyen et al. (2008) A049 [7] | 53,392,906-53,770,862 | 378 kb | mat | + | – | NR | NR | NR |  |
Froyen et al. (2008) A119 [7] | 52,823,215-53,664,301 | 841 kb | unknown | + | – | + | + | – | ADHD, seizure |
Froyen et al. (2012) EX469 [8] | 53,484,936-53,957,276 | 472 kb | mat | + | NR | NR | + | + | seizure |
Froyen et al. (2012) F538 [8] | 53,216,303-54,239,670 | 1.0 Mb | mat | + | NR | NR | + | + |  |
Froyen et al. (2012) AU88848 [8] | 53,169,907-54,101,252 | 931 kb | mat | + | NR | NR | NR | NR |  |
Froyen et al. (2012) FTD [8] | 53,198,995-54,237,527 | 1.0 Mb | mat | + | – | + | + | + | ADHD, cryptorchidism |
Froyen et al. (2012) SB1 [8] | 53,370,418-53,790,660 | 420 Kb | mat | + | – | + | + | + |  |
Froyen et al. (2012) ON1 [8] | 52,977,428-53,963,113 | 986 Kb | mat | + | – | + | + | + | ADHD |
Orivoli et al. (2016) Patient [10] | 53,459,179-53,822,042 | 363 kb | de novo | + | + | + | + | + |  |
Santos-Rebouças et al. (2015) Patient 611 [9] | 53,316,256-54,074,258 | 758 kb | mat | + | – | – | + | + | ADHD |
Santos-Rebouças et al. (2015) Patient 3272 [9] | 53,228,169-54,133,735 | 905 kb | mat | + | – | + | + | + | ADHD, seizure |
Grams et al. (2016) Patient 1 [6] | 53,160,114–53,713,154 | 897 kb | mat | + | – | + | + | + | ADHD |
Grams et al. (2016) Patient 7 [6] | 53,198,565–53,969,809 | 771 kb | mat | + | + | + | + | + | ADHD |
Grams et al. (2016) Patient 11 [6] | 53,548,808–54,062,110 | 513 kb | mat | + | + | + | + | + |  |