Prenatal identification of partial 3q duplication syndrome.
Magdalena PasińskaRafał AdamczakAnna RepczyńskaEwelina ŁazarczykBarbara IskraAgata Klaudia RungeOlga HausPublished in: BMC medical genomics (2019)
The aCGH technique is particularly valuable for the diagnostics of submicroscopic deletions and duplications, if no imbalanced chromosomal aberrations are detected by routine cytogenetic tests. It is also a valuable technique for identifying and fully characterizing genetic material of unknown origin, which can't be identified using routine cytogenetic techniqes. However, it does not allow identification of balanced aberrations in carriers.