TABLE 1.
Clinical and genetic synoptic table. Comparison of the clinical and genetic data of the 14q12q13 microdeletion cases reported in literature and our case. NS: not specified
| Clinical phenotype | Shimojima et al. (2009) | Rosenfeld et al. (2010) | Caliebe et al. (2011) | Present case |
|---|---|---|---|---|
| Breakpoint nucleotide position |
14q13.1q13.3 33.462.439–35.694.522 |
14q12q13.3 30.981.266–36.032.919 |
14q13.1q13.3 33.740.150–35694.522 |
14q12q13.3 32.217.109–35.157.847 |
| Inheritance | Paternal | NS | De novo | De novo |
| Sex | F | F | M | M |
| Neurodevelopmental delay | + | NS | − | + |
| Microcephaly | − | − | − | − |
| CC Abnormalities | − | Hypoplasia | NS | Partial hypoplasia |
| Other CNS abnormalities | Mild brain atrophy | − | − | Lateral ventricles dysmorphisms, slight extension of the subarachnoidal spaces of the frontal convexity |
| Neurological abnormalities | Hypotonia seizures | − | Hypotonia focal epilepsy | Hypotonia sleep disturbances |
| Facial dysmorphisms | − | − | Frontal bossing, pointed chin, deep philtrum | Stubby fingers, short neck, high forehead, low setting ears |