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Table 1 Features seen in Case 1 compared to 22q11 duplication syndrome and in Case 2 compared to 22q11 deletion syndrome

From: Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities

Feature 22q11 duplication syndrome Case 1 22q11 deletion syndrome Case 2
Craniofacial abnormalities x - + microcephalic, plageocephalic, overriding sutures, hypotelorism, and depressed nasal bridge
Congenital heart defect x - conotruncal malformations small patent ductus arteriosus
Palatal defect   NR + cleft lip, absent nasal septum, and cleft maxilla papilla
Ophthalmologic abnormalities   - + NR
Hearing loss x - + NR
Urogenital x NR + grade two hydronephrosis of the right kidney
Intellectual disability/learning disability x NR + NR
Psychiatric disorder anxiety NR anxiety NR
Attention deficit hyperactivity disorder   + + NR
Autism spectrum disorder   + + NR
Behavioral problems x NR + NR
Speech delay x + + NR
Growth delay x NR + NR
Hypotonia x NR + truncal and appendicular hypotonia
Seizures   NR + +
Central nervous system malformation   Chiari I malformation   
Immune deficiency    + NR
  1. NR not reported, + feature present, − feature absent