Document Detail

22q13.32 deletion and duplication and inversion in the same family: a rare occurrence.
MedLine Citation:
PMID:  22389789     Owner:  NLM     Status:  In-Data-Review    
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%.
Farooqua Jafri; James Fink; Rodney R Higgins; Raymond Tervo
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Publication Detail:
Type:  Journal Article     Date:  2011-06-21
Journal Detail:
Title:  ISRN pediatrics     Volume:  2011     ISSN:  2090-4703     ISO Abbreviation:  ISRN Pediatr     Publication Date:  2011  
Date Detail:
Created Date:  2012-03-05     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101568077     Medline TA:  ISRN Pediatr     Country:  Egypt    
Other Details:
Languages:  eng     Pagination:  829825     Citation Subset:  -    
Gillette Children's Specialty Healthcare, St. Paul, MN, USA.
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