Table 1 Comparison of genotype–phenotype of patients with Xq28 duplication syndrome
From: Genetic analysis of a pedigree with MECP2 duplication syndrome in China
Serial number | Sex | Location (GRCh37) | Pathogenicity | Size | Type | Phenotype(s) |
|---|---|---|---|---|---|---|
DECIPHER Patient | ||||||
 284,123 | 46,XX | X:137,476,878–155,226,073 | Pathogenic | 17.75 Mb | Duplication | IGR, Micrognathia |
 286,622 | 46,XX | X:139,089,231–154929220 | Likely pathogenic | 15.84 Mb | Duplication | GDD, Microcephaly, Mild IGR, Severe short stature |
 290,771 | 46,XX | X:140,222,659–155270560 | Uncertain | 15.05 Mb | Duplication | NA |
 319,602 | 46,XX | X:138,802,717–153690960 | pathogenic | 14.89 Mb | Triplication | Premature ovarian insufficiency |
 268,141 | 46,XX | 154,271,972–155,207,180 | NA | 935.21 Kb | Duplication | NA |
 473,075 | 46,XX | X:145,303,603–154225379 | pathogenic | 8.92 Mb | Duplication | NA |
 388,870 | 46,XY | X:141,522,614–154,929,412 | pathogenic | 13.41 Mb | Duplication | Cerebral palsy, ID, moderate, Short stature |
 413,745 | 46,XY | X:139,510,049–152101421 | NA | 12.59Mb | Duplication | Cryptorchidism, Delayed speech and language development, Hypospadias, ID, Moyamoya, Obesity, Secundum atrial septal defect, Short stature |
 249,396 | 46,XY | X:140,664,743–152216545 | NA | 11.55 Mb | Duplication | Cryptorchidism, Hypertelorism, Hypotonia, ID, Low-set ears, Micrognathia, Short stature |
 286,610 | 46,XY | X:141,977,992–151,335,231 | Pathogenic | 9.36 Mb | Duplication | Decreased testicular size, Hypospadias |
 423,248 | 46,XY | X:140,222,631–148838733 | Pathogenic | 8.62 Mb | Duplication | GDD, Recurrent infections, Strabismus |
 3457 | 46,XY | X:140,384,198–148971029 | NA | 8.59 Mb | Duplication | Delayed speech and language development, Feeding difficulties, ID, Medial flaring of the eyebrow, Microcephaly, Small scrotum, Strabismus |
ClinVar database | ||||||
 58,688 | NA | X: 139,308,651–54917042 | Pathogenic | 15.5Mb | Duplication | NA |
 58,691 | NA | X: 139,527,393–53,832,724 | Pathogenic | 14.2Mb | Duplication | NA |
 146,621 | NA | X: 139,865,555–54,785,891 | Pathogenic | 14.8Mb | Duplication | NA |
 73,287 | NA | X: 140,254,480–154929279 | Pathogenic | 14.5Mb | Triplication | NA |