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Fig. 4 | BMC Medical Genetics

Fig. 4

From: A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder

Fig. 4

Co-inheritance of two genetic alterations. The CCDC103 variant (blue) and the 17q12 microduplication (red) are both located on chromosome 17, approximately 6 Mb apart. Given the co-inheritance of PCD/laterality with the 17q12 microduplication syndrome, the mother (IV:2) most likely carries the two genetic alterations in cis. The father (IV:1) carries only the CCDC103 variant. Therefore, all offspring within this family who have PCD and laterality defects will also have 17q12 microduplication syndrome, provided there is no recombination on the maternal chromosome

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