Case Report
Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6
Table 1
Phenotypic features recorded in different allied syndromes associated with del6p.
| Phenotypic features | Our case | Reitscher-Schinzel: 3C | Axenfeld-Reiger | Larsen |
| Head | | | | | High forehead | + | + | | + | Hydrocephaly | | + | + | | Scalp with bilateral ridges | + | | | | Prominent occiput | | + | | | Bilateral circular hair pattern | + | | | | Posterior fontanelle closed | + | | | | Anterior fontanelle | | Large | | | Short neck | + | | |
+
|
| Face | | | | | Flat | + | | | + | Hypertelorism | + | + | | + | Flat nasal bridge | + | + | + | + | Flat and short nose | + | | | | Cleft palate/lip | High arched | + lip/palate | | + palate | 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 | − | Coloboma | + | Iris coloboma | Glucoma | − | Inconsistent | + | + | Iris hypoplasia | − | | + | − | Fundoscopy | Normal | Normal | | | Bow shaped mouth | − | | | + | Dental abnormalities | NR | | + |
+
|
| Hands | | | | | Simian-like palmer crease | +, right hand | | | | Microphallus | + | | | | Spatulate thumbs with broad nails | − | | | + | Cylindrical fingers | − | | | + | Overriding fingers | − | + | | + | Clinodactyly | + | | |
+
|
| Foot | | | | | Big gap between 1st and 2nd toe | + | | | | Rocker bottom feet | + | + | | | Club foot varus or valgus | − | | |
+
|
| Genitalia | | | | | Micropenis | + | | | | Hydrocele | + Left sided | | | | Hypospadius | − | | + | + | Urogenital sinus | − | | | + | Pyloric stenosis | − | | | + | Anal atresia | − | + | | + | Rectovaginal fistula | − | + | | |
| Systemic | | | | | 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 | ?+ | + | + | + |
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