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Table 1 Clinical features observed in patients with duplications at Xp11.22. The genomic coordinates are based on GRCH37/hg19

From: Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1

ReferenceGenomic location (chrX)SizeOriginID GrowthGrowth delayMotor delayLanguage delayFacial dysmorphismOther phenotypes
Our family 153,358,265-53,645,732287 kbmat+++ 
Our family 253,428,070-53,992,238564 kbmat+++ADHD
Our family 352,686,671-54,621,4651.9 Mbmat+++micropenis, small testes, cryptorchidism
Our family 452,923,471-55,551,5842.6 Mbmat+++micropenis, small testes
DECIPHER 26321953,449,334-53,681,188232 kbde novo+++++ 
DECIPHER 24949051,786,514-55,633,5053.9 MbunknownNRNRNR++micropenis, small testes
Froyen et al. (2008) FAM3 [7]53,384,357-53,723,273339 kbmat+NR++ADHD
Froyen et al. (2008) P083 [7]53,440,734-53,852,372412 kbunknown+NR+ 
Froyen et al. (2008) A057 [7]52,987,653-53,713,244726 kbunknown++ADHD
Froyen et al. (2008) A009 [7]53,220,275-53,981,275761 kbmat+NRNRNR 
Froyen et al. (2008) A049 [7]53,392,906-53,770,862378 kbmat+NRNRNR 
Froyen et al. (2008) A119 [7]52,823,215-53,664,301841 kbunknown+++ADHD, seizure
Froyen et al. (2012) EX469 [8]53,484,936-53,957,276472 kbmat+NRNR++seizure
Froyen et al. (2012) F538 [8]53,216,303-54,239,6701.0 Mbmat+NRNR++ 
Froyen et al. (2012) AU88848 [8]53,169,907-54,101,252931 kbmat+NRNRNRNR 
Froyen et al. (2012) FTD [8]53,198,995-54,237,5271.0 Mbmat++++ADHD, cryptorchidism
Froyen et al. (2012) SB1 [8]53,370,418-53,790,660420 Kbmat++++ 
Froyen et al. (2012) ON1 [8]52,977,428-53,963,113986 Kbmat++++ADHD
Orivoli et al. (2016) Patient [10]53,459,179-53,822,042363 kbde novo+++++ 
Santos-Rebouças et al. (2015) Patient 611 [9]53,316,256-54,074,258758 kbmat+++ADHD
Santos-Rebouças et al. (2015) Patient 3272 [9]53,228,169-54,133,735905 kbmat++++ADHD, seizure
Grams et al. (2016) Patient 1 [6]53,160,114–53,713,154897 kbmat++++ADHD
Grams et al. (2016) Patient 7 [6]53,198,565–53,969,809771 kbmat+++++ADHD
Grams et al. (2016) Patient 11 [6]53,548,808–54,062,110513 kbmat+++++ 
  1. ID Intellectual disability, ADHD Attention deficit hyperactivity disorder, NR Not reported.