22q13.32 Deletion and Duplication and Inversion in the Same Family : A Rare Occurrence

Abstract EN

Chromosome 22q13.3 deletion syndrome is a well-recognized cause of global developmental delay, while duplication of the same chromosome is a rare occurrence.

The presence of both abnormalities in the same family has never been reported, to our knowledge.

We report a rare occurrence of 22q13.3 duplication and 22q13.3 deletion in siblings, as a consequence of a mother's inversion on her 22nd chromosome (p13;q13.32).

A 6 year old male was noted in infancy to have mild global developmental delay without dysmorphic features.

His genetic testing revealed he had 22q13.3 duplication to the terminus.

His 4 year old brother was noted in early infancy to have severe global developmental delay and dysmorphic features related to 22q13.3 deletion to the terminus.

Their mother had a long inversion on her 22nd chromosome.

Genetic tests for their father and eldest brother were unremarkable.

The mother's inversion may rearrange to form 22q duplication or deletion when passed on to children.

The chance of a child born with a chromosome imbalance is as high as 50%.