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Pedigree of Family X. The mother (carrier symbol) has no physical features of Cornelia de Lange syndrome on exam. Her blood was tested and was not found to have the same 64+1 G>A in exon 2 of NIPBL mutation seen in her children. All miscarriages were spontaneous. The mother has no unaffected children. The miscarried products of conception were not molecularly evaluated for NIPBL mutations.
