We discovered the same microdeletion 2q11.1q11.2 for a fetus presenting with cleft lip/ cardiac malformation/ clinodactyly. It is inherited from a father no yet seen in consultation. Is this variant can be considered as a putative cause of a syndrome with malformations and ID.

Conference Paper Microdeletion 2q11.1q11.2 including haploinsufficiency of SN...

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