Table 2 The peculiar clinical phenotype and neuroradiological features of a child harbouring an uncommon 18q22.3q23 interstitial microdeletion
Patients (coordinates) | Growth retardation | Dysmorphisms | CAA | Dysmielination | Intellectual disability | CVT | Others | Genes |
|---|---|---|---|---|---|---|---|---|
Present case Arr cgh18q22.3q23 (chr18:72887342–75418267) 2.531 Mb | Yes | Epicanthal folds, long nasal philtrum, thin upper lip, low-set ears, prominent frontal bossing and sparse light hair | Yes | Yes | Yes | Yes | Recurrent fever | ZADH2 TSHZ1 SMIM21 ZNF516 ZNF236 MBP GALR1 |
[12] Arr cgh 18q22.3q23 (chr18:70508757–74627485) 4.118 Mb | Yes | bitemporal narrowing, abnormal external ears | Yes | Not reported | Yes | No | Cleft soft palate | ZNF407 ZADH2 TSHZ1 SMIM21 ZNF516 ZNF236 MBP GALR1 |
[3] pat.1 Arr cgh 18q22.3q23 (chr18:72493281–74110482) 1.617 Mb | No | prominent epicanthal folds, depressed nasal bridge, | Yes | No | Yes (Speech delay) | Yes |  | ZNF407 ZADH2 TSHZ1 SMIM21 ZNF516 |
[13] pat.2 Arr cgh 18q22.3q23 (chr18:72.9–75.4) 2.5 Mb | No | hypertelorism, midfacial hypoplasia, and a broad mouth with prominent lips | Yes | Not reported | No | Yes | Two sons with the same clinical features of the mother | TSHZ1 SMIM21 ZNF516 ZNF236 MBP GALR1 |