Table 1.
Clinical, imaging and cytogenetic findings in five patients harbouring 7qter abnormalities
| Main features | Masuno [17] | Rodriguez [20] | Horn [11] | Present patient | |
|---|---|---|---|---|---|
| Patient 1 | Patient 2 | ||||
| Sex/age | F/2.6 yrs | M/7.2 yrs | M/38 wks | M/3.1 yrs | F/3 yrs |
| Pregnancy | – | – | Diabetes (20–22 wks) | – | – |
| Weight (kg) | 8.9 (−2.3 SD) | 13 (−2.6 SD) | 2.8 (25–50th perc) | 10 (<3rd perc) | 7 |
| Length (cm) | 80.5 (−2.3 SD) | 95.5 (−5 SD) | 46 (10–25th perc) | 89 (<3rd perc) | 72 |
| Head circumference (cm) | 42.2 (−3.7 SD) | 44.5 (−5.1 SD) | 31.6 (10th perc) | 46 (<3rd perc) | 39.5 (<3rd perc) |
| Neonatal period | FS (10 mo) | pyelonephritis | Bacterial meningitis | Hypotonia, failure thrive | RD, IAD, DA |
| Craniofacial | |||||
| Microcephaly | + | + | + | + | + |
| Hypertelorism | − | − | − | − | + |
| Hypotelorism | + | + | − | + | − |
| Epicanthal folds | − | − | − | − | + |
| Hypoplastic eyebrows | − | − | − | − | + |
| Coloboma | − | − | − | − | − |
| Ptosis | − | − | + | + | + |
| Depressed nasal root | + | − | − | − | + |
| Large ears | − | − | − | − | + |
| Low-set hair | − | − | − | − | + |
| Midface hypoplasia | + | + | − | − | − |
| Choanal narrowing | − | − | − | − | − |
| Single central incisors | + | + | − | − | + |
| Cleft palate | − | − | − | − | − |
| Prominent maxilla [mild micro-retrognathia] | − | − | − | − | + |
| Small heart-shaped mouth | − | − | − | − | + |
| V-shaped depression (chin) | − | − | − | − | + |
| Small hands (short thumbs) | − | − | − | − | + |
| Syndactyly | − | − | − | − | + |
| Currarino triad | |||||
| Sacral agenesis (below S1) | + | + | + | + | + |
| Pre-sacral tumour | − | − | + | − | + |
| Anorectal malformations | − | − | − | − | + |
| Other/systemic | |||||
| Tethered cord | − | − | + | + | + |
| Urogenital anomalies | + | − | − | − | − |
| Pituitary abnormalities | − | − | − | + | − |
| Other brain abnormalities | − | − | hydrocephaly | − | Hypoplastic vermis |
| Cytogenetic/FISH | 46,XX,del(7)(pter->q36.1:) | 46,XY,del(7)(pter->q36.1:) | 46,XY,del(7)(q36->qter) | 46,XY,del(7)(q36.1) | 46 XY, dup 7q34–q35 (chr7: 138,293,371–148,443,994) |
| del 7q36 (chr7: 148,472,027–157,265,994) | |||||
M male, F female, yrs years, mo months, NR not recorded, perc percentile, DA ductus arteriosus, FS febrile seizures, IAD interatrial defect, RD respiratory distress, S1 1st sacral vertebra, SD standard deviations