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. 2018 Oct 1;26(Suppl 1):113–819. doi: 10.1038/s41431-018-0247-7
Summary of clinical features of patients with 6q22.1-q22.31 deletions
Patient 1 Patient 2 Patient 3 Patient 4
Age, sex 5 years., male 4 years., male 1 month, female 3 months, female
Developmental delay + + +
Seizures Only epileptiform activity on EEG +
Craniosynostosis + +
Brain malformation + +
Dysmorphic facial features + + + +
Size, Mb 9,8 7,9 13,9 11,9
Molecular karyotype arr[hg19] 6q22.1q22.31(114650304_124411267)x1 arr[hg19] 6q22.1q22.31(117939083_125843984)x1 arr[hg19] 6q21q22.31(109428325_123335803)x1 arr[hg19] 6q21q22.31(113684116_125569047)x1