Examination of copy number variants, alternative splicing, epigenetics and genetic variants are needed to characterise the interactions between heritable and non-heritable mutations for an insight into the full genomic complexity of these little - understood disorders.
As an example, skeletal malformations and dysplasias, often detected through routine prenatal ultrasound
examination, constitute a phenotypic finding in more than 300 syndromic and non-syndromic disorders and their genetic etiology may be due to a wide variety
of genetic aberrations, ranging from
copy number variations to single gene mutations.