Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2.

[22q11.2 deletion syndrome]

The 22 q 11 .2 duplication syndrome has been recently characterized as a new entity with features overlapping the 22 q 11 .2 deletion syndrome . Most 22 q 11 .2 duplications represent reciprocal events of the typical 3 -Mb deletions extending between low copy repeat (LCR ) 22 -A and LCR 22 -D . It has been suggested that the clinical manifestations observed in patients with 22 q 11 .2 microduplications may range from milder phenotypes to multiple severe defects , and this variability could be responsible for many undetected cases . Here , we report on a patient with a 1 .2 -Mb microduplication at 22 q 11 .2 spanning LCR 22 -F and LCR 22 -H which harbor the SMARCB 1 and SNRPD 3 genes . The patient presented healed cleft lip , mild facial dysmorphism , cognitive deficit , and delayed language development associated with severe behavioral problems including learning difficulties and aggressive behavior .

Diseases
Validation

Diseases presenting "multiple severe defects" symptom

22q11.2 deletion syndrome

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