How to determine that a copy number variation such as deletion of exones 7 and 8 of SMN1 gene be in cis form or in trans form?

An affected child with SMA is homozygous mutant of SMN1 exones 7 and 8 deleted. Father is hetrozygous and carrier for deletion of exones 7 and 8 of SMN1 gene and mother has a normal copy number of...

05 April 2025 9,408 4 View