Table 1.
Clinical features and CMA results for 10 cases
| Case | Sex, age | CMA results |
ELN gene deletion | Other CNVs | Karyotype | Results of parental tests | Clinical features | |
|---|---|---|---|---|---|---|---|---|
| deletion | size | |||||||
| 1 | F, 27 gw | arr7q11.2 (72,701,018–74,141,746)×1 | 1.44 Mb | yes | 46,XX | maternal FISH: 7q11.23 deletion | right pelvic ectopic kidney | |
| 2 | M, 3 w | arr7q11.23 (72,718,277–74,142,190)×1 | 1.42 Mb | yes | – | – | SVAS, PFO, PS, distinctive facial features | |
| 3 | F, 3 mo | arr7q11.23 (72,643,631–74,142,190)×1 | 1.50 Mb | yes | – | – | PS, PFO | |
| 4 | M, 4.5 ys | arr7q11.23 (72,611,954–74,143,060)×1 | 1.53 Mb | yes | 15q11.2 microduplication | 46,XY | parental CMA: normal | GDD |
| 5 | M, 5 ys | arr7q11.23 (72,701,018–74,253,352)×1 | 1.55 Mb | yes | 46,XY | – | SVAS, PFO GDD | |
| 6 | F, 1 y | arr7q11.22q11.23 (70,463,755–74,629,034)×1 | 4.16 Mb | yes | SVAS, GDD, mitral valve insufficiency, urinary fistula, distinctive facial features | |||
| 7 | F, 7 ys | arr7q11.21q11.23 (64,721,473–74,610,673)×1 | 9.88 Mb | yes | 11q14.3 microduplication | 46,XX | parental FISH: normal | mental retardation, feeding difficulties, impaired social interaction, upper eye lid edema |
| 8 | M, 13+4 gw | arr7q11.23 (72,404,175–72,481,934)×1 (72,621,798–72,718,124)×1 | 78 kb 96 kb | no | – | – | duodenal atresia, single umbilical artery | |
| 9 | M, 5 ys | arr7q11.23 (72,414,624–72,458,643)×1 (72,621,722–72,710,124)×1 | 44 kb 96 kb | no | 46,XY | parental FISH: normal | AS, VSD, GDD, cleft palate, patellar dislocation | |
| 10 | F, 32 ys | arr7q11.23 (74,242,166–74,384,749)×1 | 145 kb | no | 46,XX | phenotypically normal, her baby had epilepsy, spasm, muscle tremor, and died at 4 months. | ||
AS = Aortic stenosis; F = female; GDD = global developmental delay; gw = gestational weeks; M = male; mo = months; PFO = patent foramen ovale; PS = pulmonary stenosis; SVAS = supravalvular aortic stenosis; VSD = ventricular septal defect; w = weeks; ys = years.