Clinical characteristics of our patients with pathological genetic findings
| Patient No | Age | Sex | Craniosynostosis | Dysmorphic features | Psychomotor development | IQ | Additional personal and familial findings |
|---|---|---|---|---|---|---|---|
| 2 | 3 years | male | metopic | craniofacial | delayed | 72 | ASD; mother with pes planus |
| 8 | 4 years | female | coronal | craniofacial, short neck, thoracic hyperkyphosis, brachydactyly | Normal then regress | 74 | psychomotor regress, gastrointestinal symptoms |
| 22 | 2 years | male | sagittal | craniofacial; macro-dolichocephaly; single transverse palmar crease on both hands; umbilical hernia | delayed | 21 | unilateral hydronephrosis; seizures; cortical atrophy, right fronto-parietal porencephaly and postischemic defects |
| 25 | 5 months | male | coronal and sagittal | mild craniofacial; upper limb rhizomelia | delayed | 60 | anaemia, recurrent respiratory infections |
| 29 | 5 years | female | lambdoid | craniofacial | delayed | 58 | Dandy-Walker occipital cyst; maternal karyotype 46,ХХ,t(2;7)(q14;q35) |
| 34 | 4 years | male | metopic | craniofacial | delayed | 64 | mitral valve insufficiency; corpus callosum hypoplasia |
A summary of the results from all genetic assays in our sample
| Patient No | Chromosome analysis | MLPA findings | aCGH findings – ISCN Notation and size | Class | Candidate genes |
|---|---|---|---|---|---|
| 2 | 46,XY | normal | arr[hg19] 1q21.1 (144440748x2, 144510920- 146188485x3, 146290655x2) (1.85Mb) | pathogenic | - |
| 8 | 46,XX | normal | arr[hg19] 14q32.33(105524898x2, 105609511- 105787438x0, 105845682x2) (177.93Kb) | likely pathogenic | - |
| 22 | 46,XY | del 5q35.3 (NSD1) | arr[hg19] 5q35.2 (175,470,501- 177,136,261x1) (1.66 Мb) | pathogenic | FGFR4 |
| 25 | 46,XY | normal | arr[hg19] 1q12q21.2(120322008x2, 142513049- 147134234x3, 147203277x2) (4.62 Mb) | pathogenic | - |
| 29 | 46,ХХ,t(2;7)(q14;q35) | dupl 2p16.1 | arr[hg19] 2p22.3p16.1(36033514x2, 36095582- 61287377x3, 61369298x2) (25.19 Mb) | pathogenic | SIX2 |
| 34 | 46,XY | del 4q(TRIML2) | arr[hg19] 1p22.1 (92258725x2, 92326818- 92705290x3, 92767467x2) (378.47 Kb) | likely pathogenic | TGFBR3 |