Clinical findings | Chia et al13 |
Verschuuren-Bemelmans et al14 |
Verschuuren-Bemelmans et al14 | Present case |
Sex | M | F | M | F |
Age | 5 weeks | 22 years | 20 years | 5 years |
1q partial duplication | 1q42–qter | 1q42–qter | 1q42–qter | 1q–44qter |
Parental origin | t(1;22)(q42;p12)mat | t(1;15)(q42;p11)pat | t(1;15)(q42;p11)pat | t(1;15)(q44;p12)mat |
Growth retardation | Prenatal | + | + | − |
Mental retardation | / | + | + | − |
Macrocephaly | + | + | + | + |
Large fontanelle | + | + | − | − |
Widely spaced sutures | + | + | − | − |
Prominent forehead | + | + | + | + |
Downward slanting palpebral fissures | − | + | + | − |
Hypertelorism | / | / | / | + |
Flat nasal bridge | + | − | − | − |
High arched palate | / | + | − | − |
Micrognathia/retrognathia | + | + | + | − |
Abnormal ears | + | − | − | − |
Cerebral anomaly | / | + | − | − |
Cardiac defect | + | Systolic murmur | − | VSD spontaneously closed |
+ present, − absent, / not reported.
VSD: ventricular septal defect.