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Table 2 The peculiar clinical phenotype and neuroradiological features of a child harbouring an uncommon 18q22.3q23 interstitial microdeletion

From: Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature

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