A.The clinical diagnosis may or may not be specific B.The inheritance mode is not clear for the isolated cases C.The progression(進(jìn)展) of condition can take several decades D.Locus heterogeneity(位點(diǎn)差異性)
A.Chromosome banding B.FISH C.Mass spectrometry(MS) D.Next Generation Sequencing(NGS-二代測(cè)序)