表格1
表型特征记录在与del6p相关联的不同结盟综合征。
|
| 表型特征 |
我们的情况下， |
Reitscher-Schinzel：3C |
Axenfeld-了Reiger |
拉森 |
|
| 头 |
|
|
|
|
| High forehead |
+ |
+ |
|
+ |
| Hydrocephaly |
|
+ |
+ |
|
| Scalp with bilateral ridges |
+ |
|
|
|
| Prominent occiput |
|
+ |
|
|
| Bilateral circular hair pattern |
+ |
|
|
|
| Posterior fontanelle closed |
+ |
|
|
|
| Anterior fontanelle |
|
大 |
|
|
| Short neck |
+ |
|
|
+ |
|
| 面对 |
|
|
|
|
| Flat |
+ |
|
|
+ |
| Hypertelorism |
+ |
+ |
|
+ |
| Flat nasal bridge |
+ |
+ |
+ |
+ |
| Flat and short nose |
+ |
|
|
|
| Cleft palate/lip |
高高耸起 |
+唇/腭 |
|
+腭 |
| Low set ears |
+ |
+ |
|
+ |
| Malformed ears |
+ |
+ |
|
|
| Malformed ear without opening |
+ |
|
|
|
| Protruding tongue |
+ |
|
|
|
| Short stubby tongue |
+ |
|
|
|
| Glossoptosis |
+ |
|
|
|
| Down slanting palpebral fissures |
+ |
+ |
|
|
| Epicanthal fold |
+ |
|
|
|
| Broad philtrum |
+ |
+ |
|
|
| Micrognathia |
+ |
+ |
|
|
| Occular malformation |
- |
缺损 |
+ |
虹膜缺损 |
| Glucoma |
- |
不符 |
+ |
+ |
| Iris hypoplasia |
- |
|
+ |
- |
| Fundoscopy |
正常 |
正常 |
|
|
| Bow shaped mouth |
- |
|
|
+ |
| Dental abnormalities |
NR |
|
+ |
+ |
|
| 手 |
|
|
|
|
| Simian-like palmer crease |
+，右手 |
|
|
|
| Microphallus |
+ |
|
|
|
| Spatulate thumbs with broad nails |
- |
|
|
+ |
| Cylindrical fingers |
- |
|
|
+ |
| Overriding fingers |
- |
+ |
|
+ |
| Clinodactyly |
+ |
|
|
+ |
|
| 脚丫子 |
|
|
|
|
| Big gap between 1st and 2nd toe |
+ |
|
|
|
| Rocker bottom feet |
+ |
+ |
|
|
| Club foot varus or valgus |
- |
|
|
+ |
|
| 生殖器 |
|
|
|
|
| Micropenis |
+ |
|
|
|
| Hydrocele |
+左双面 |
|
|
|
| Hypospadius |
- |
|
+ |
+ |
| Urogenital sinus |
- |
|
|
+ |
| Pyloric stenosis |
- |
|
|
+ |
| Anal atresia |
- |
+ |
|
+ |
| Rectovaginal fistula |
- |
+ |
|
|
|
| 系统的 |
|
|
|
|
| Respiratory distress |
+ |
+ |
|
|
| ASD/VSD |
+ ASD |
ASD / VSD |
CHD |
- |
| Hydronephrosis |
- |
+ B / L |
|
+ |
| Cerebellar hypoplasia |
- |
+ |
+ |
- |
| Vomiting |
+ |
|
|
|
| Dilated ventricles |
+ |
|
|
|
| Joint laxity |
- |
|
|
+ |
| Knee/hip dislocation |
- |
|
|
+ |
| Scoliosis |
- |
|
|
+ |
| Psychomotor retardation |
+ |
+ |
+ |
+ |
| Hearing loss |
？+ |
|
+/- |
+ |
| Developmental delay |
+ |
+ |
|
+ |
| Growth retardation |
+ |
+ |
+ |
+ |
| Mental retardation |
+ |
+ |
+ |
+ |
| Convulsions |
- |
- |
|
|
| Immunodeficiency |
+ |
|
|
+ |
| Delayed speech |
？+ |
+ |
+ |
+ |
|
|
