Table 3 Advantages and disadvantages of the multiple techniques used to diagnose segmental aneuploidies.

		Method
		QPCR		PSQ		FISH		Microsatellites		Southern
Speed (days)		1		1		5 (2)*		1		6
Cost per assay (€)		30		10		80		15/30/45†‡		80
Advantages		Great adaptability to uncommon rearrangement§				Possibility of diagnosing inversion¶				Possibility of diagnosing inversion
Disadvantages		Inversion impossible to diagnose		Relies on paralogous sequences; impossible to diagnose inversion		Labour intensive		Relative informativeness of SNPs; discovery of non‐paternity; impossible to diagnose inversion		Requires working with radioactivity**; labour intensive

*A preliminary result can be given after two days.

†Price for QF‐PCR.

‡€45/assay includes both parents.

§See, for example, the mapping of breakpoints of atypical deletion patient detailed in this report.

¶By three colour FISH (see, for example, Bayes et al, 2003¹⁷).

**Possibility of working with non‐radioactive digoxygenin, but with a diminished sensitivity.

FISH, fluorescence in situ hybridisation; PSQ, paralogous sequence quantification; QPCR, quantitative real time polymerase chain reaction; SNP, single nucleotide polymorphism.