Table 1 Phenotypic differences between patients with 4q21 microdeletions and common features of the minimal critical region
From: Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome
Clinical/common features | Minimal critical region [ 5 ] | Smallest described deletion [ 7 ] | Largest described deletion [ 5 ] | Current case report |
|---|---|---|---|---|
Deletion | 4q21.21-21.22 | 4q21.22-q21.23 | 4q21.21-q22.3 | 4q21.21-4q21.23 |
Size (Mb) | 1.37 | 2.0 | 15.1 | 4.85 |
Age at diagnosis (years) | NA | 7 | 8 | 5 |
Craniofacial features | ||||
Frontal bossing, broad forehead | Yes | Yes | Yes | Yes |
Downslanting palpebral fissures | ND | Yes | ND | Yes |
Hypertelorism | Yes | Yes | No | Yes |
Anteverted nostrils | ND | ND | Yes | Yes |
Short philtrum | ND | ND | Yes | Yes |
Hypoplastic ear-lobes | ND | No | Yes | Yes |
Small mouth | ND | Yes | ND | Yes |
Higharched palate | ND | Yes | ND | Yes |
Developmental delay | Yes | Moderate | Yes | Yes |
Neonatal hypotonia | Yes | No | Yes | Yes |
Gross motor delay | Yes | moderate | Yes | Yes |
Delayed speech | Yes | Yes | Yes | Yes |
Stereotypic movements | ND | ND | ND | Yes |
Behavioral disturbance | ND | Yes | ND | Yes |
Anthropometric and skeletal abnormalities | Yes | Yes | Yes | Yes |
IUGR | ND | No | Yes | Yes |
Birth weight (centile) | ND | 50th | 25th | 25-50th |
Postnatal growth delay | Yes | No | −5SD | −2SD |
Conserved head circumference | Yes | +1SD | −0.5SD | +1 SD |
Small hands and small feet | Yes | Yes | No | Yes |
Brachydactyly | Yes | Yes | No | Yes |
Cerebral imaging abnormality | Yes | Yes | ||
Ventricular dilation | ND | No | Yes | Yes |
Corpus callosum hypoplasia | ND | No | ND | Yes |
Cerebellar vermis hypoplasia | ND | No | ND | No |
Frontal cerebral hypoplasia | ND | No | Yes | No |