Microcephaly and Blepharophimosis in a girl with 46,XX,ins(6;3)(q23;q27q21)

Abstract

This clinical report describes a one year old girl with severe microcephaly,moderate developmental delay and blepharo����imosis. She had no internalorgan malformations and structural brain abnormalities. Frequent upperrespiratory infections were noted. The chromosome analysis revealed46,XX,ins(6;3)(q23;q27q21) de novo. 44k array was also performed andshowed no abnormalities.The Blepharophimosis phenotype is known to be associated with the FOXL2gene which is located at 3q22.3. The ATR gene that is responsible for theSeckel Syndrome phenotype is located at 3q23. We are awaiting targetedarray analysis results, which will show us the etiology of overlapping microcephalyand blepharophimosis phenotypes.