Table 2.
Clinical features of the patients with a 17q21.31 microdeletion
| Case | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | Total (%) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Current age (years) | 10/12 | 1 | 3 | 3 | 3 | 35/12 | 36/12 | 4 | 58/12 | 6 | 6 | 13 | 13 | 139/12 | 14 | 14 | 15 | 17 | 18 | 20 | 17 | 26 | |
| Gender | M | M | F | F | F | F | M | F | F | F | F | F | M | M | M | F | F | F | M | M | F | M | |
| Growth parameters | |||||||||||||||||||||||
| Low birth weight | – | – | – | – | – | + | – | – | – | – | – | + | – | – | – | – | + | + | – | + | + | – | 27 |
| Microcephaly | – | + | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | 5 |
| Short stature | – | – | – | – | – | – | – | – | – | + | – | – | – | – | + | + | – | – | – | + | – | – | 18 |
| Developmental delay | + | + | + | + | + | + | ++ | + | ++ | + | + | + | ++ | + | + | ++ | + | + | + | ++ | + | + | 100 |
| Hypotonia (childhood) | + | ++ | + | ++ | ++ | + | + | – | + | ++ | + | + | + | ++ | ++ | + | + | + | + | + | + | ++ | 96 |
| Epilepsy | – | – | + | – | – | + | – | + | – | + | – | + | – | – | – | + | + | + | + | + | + | – | 50 |
| Facial features | |||||||||||||||||||||||
| Abnormal hair colour/texture | + | + | + | + | + | + | + | + | + | + | – | – | – | – | + | – | + | + | – | – | – | – | 55 |
| High/broad forehead | + | – | + | + | + | + | + | – | + | + | – | + | + | + | – | + | – | – | + | + | – | + | 68 |
| Long face | – | + | – | + | + | + | + | – | + | + | + | + | + | – | + | – | + | + | + | 74 | |||
| Hypermetropia | – | – | + | – | – | + | – | + | – | – | – | – | – | + | – | + | + | – | – | + | + | – | 36 |
| Nasal speech | na | na | na | na | na | na | na | + | na | + | + | + | – | – | – | – | – | – | + | + | 50 | ||
| Pale irides | – | – | – | – | + | – | + | + | – | + | – | + | – | + | – | + | + | + | – | – | + | – | 45 |
| Strabismus | + | – | + | – | + | + | + | + | + | – | – | – | – | – | – | + | + | – | – | – | – | + | 45 |
| Upward slant | + | + | + | – | + | + | + | + | + | + | + | + | – | + | – | + | – | + | – | – | + | – | 68 |
| Blepharophimosis | – | – | + | – | + | – | – | + | – | – | – | – | – | + | – | – | + | + | – | – | + | + | 36 |
| Ptosis | – | – | + | – | + | + | + | + | + | + | – | – | – | + | – | + | – | – | – | – | + | + | 50 |
| Epicanthal folds | + | + | + | + | + | + | + | + | + | + | + | – | – | + | – | + | + | + | – | – | – | – | 68 |
| Tubular or pear shaped nose | + | + | – | + | + | – | + | + | + | + | – | – | + | + | + | + | + | + | + | + | + | + | 82 |
| Bulbous nasal tip | + | + | + | + | + | – | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | 95 | |
| Large/prominent ears | + | – | – | + | + | + | – | + | + | + | – | – | + | + | + | – | + | – | – | – | + | + | 59 |
| Narrow/high palate | + | + | – | – | + | – | – | – | + | – | – | – | + | + | + | – | – | + | + | + | – | + | 50 |
| Cleft palate | – | – | – | – | – | – | – | – | – | – | – | + | + | – | – | – | – | – | – | – | – | – | 9 |
| Broad chin | – | – | – | – | + | – | + | – | – | + | + | – | + | – | – | + | + | – | – | + | + | 42 | |
| Extremities | |||||||||||||||||||||||
| Narrow hands | + | + | – | – | + | – | + | – | – | – | – | – | – | – | – | – | + | – | 28 | ||||
| Slender/long fingers | + | + | – | – | + | – | + | + | + | – | – | – | – | + | + | + | + | + | 61 | ||||
| Hypoplasia hand muscles | – | + | – | – | – | – | + | – | – | + | – | + | – | – | – | + | – | 29 | |||||
| Dislocation of the hip(s) | – | – | + | – | + | – | – | + | – | – | – | + | + | – | + | – | – | – | – | – | – | – | 27 |
| Slender lower limbs | + | – | – | – | + | – | + | + | – | + | – | – | – | + | – | + | – | 41 | |||||
| Positional deformity feet | – | – | – | – | – | – | – | – | + | – | + | – | + | + | – | – | – | – | – | – | + | + | 27 |
| Other congenital malformations | |||||||||||||||||||||||
| Heart defects (VSD/ASD) | + | + | + | – | – | – | + | + | – | + | – | – | – | – | – | – | – | – | – | – | – | – | 27 |
| Kidney and urologic anomalies | – | – | – | + | – | + | – | – | – | + | – | + | + | + | – | – | – | + | – | – | – | – | 32 |
| Cryptorchidism | + | + | + | – | + | + | – | + | + | 78 | |||||||||||||
| Scoliosis/kyphosis | – | – | + | – | – | – | – | – | – | – | – | – | + | + | + | – | – | + | – | + | + | + | 36 |
| Pectus excavatum | + | + | – | – | + | – | – | – | – | – | – | + | – | – | – | – | – | – | – | + | – | – | 23 |
| Ventriculomegaly | + | – | – | + | – | – | – | – | + | – | – | – | + | – | + | + | 38 | ||||||
| Friendly/amiable behaviour | + | + | + | + | – | + | + | + | + | + | + | – | + | + | + | + | + | + | 89 | ||||
| Other clinical features | * | † | ‡ | § | ¶ | ** | †† | ‡‡ | §§; ¶¶; *** | ††† | §; ‡‡‡ | §§§; ¶¶¶ | ‡‡‡; **** | ¶¶ | †††† |
ASD, atrial septal defects; VSD, ventricular septal defects.
+, feature present; ++, feature severe; –, absent; na, not assessable.
*
Persistent ductus arteriosus
†
neonatal haemorrhagic parenchymal infarction, aortic thrombus
‡
periventricular white matter lesions
§
behavioural problems
¶
metopic ridge
**
hypothyroidism
††
sagittal synostosis
‡‡
bilateral cataract
§§
ulnar deviation of wrists
¶¶
contractures
***
compression of upper cervical spinal cord
†††
severe ichthyosis
‡‡‡
agenesis of corpus callosum
§§§
pyloric stenosis
¶¶¶
tracheomalacia
****
c4/5 fused vertebrae
††††
communicating hydrocephalus.