Table 2.

Comparison of targeted haplotyping, direct mutation analysis with Karyomapping for linkage based diagnosis of Marfan syndrome and cytogenetic analysis with Karyomapping in single cells biopsied from cleavage stage embryos

Embryo (blasto -mere)	Short tandem repeats (bp)			Mutation (c.235C>T)	Interpretation	Karyomap analysis	? Concordant	Paternal Chromosome		Maternal Chromosome		Comment
	Paternal/Maternal					Paternal /Maternal		Gain	Loss	Gain	Loss
1 (1)	193	275	180/200	Normal allele only	Unaffectedc	P2/M1	Yes				21	Mosaic loss of chr21
1 (2)	193	275	180/200	Normal allele only	Unaffectedc	P2/M1	Yes
2	185/193a	271/275a	176/200a	Normal & mutant allele	Affected	P1/M1	Yes			1 (MeII)
3	193	275	−/192b	Normal allele only	Unaffectedc	-/M2 (Mat genome only)	Yesb		All chrs	10 (MeI)	19	No paternal genome
4	193	275	180/192	Normal allele only	Unaffected	P2/M2	Yes		6qterd			Embryo Transferred
5 (1)	193	275	180/200	Normal allele only	Unaffected	P2/M1	Yes					Embryo Transferred
5 (2)	NR	NR	NR	Normal allele only	Amplification failure	NR	N/A					No amp
6	193	275	200	Normal allele only	Unaffectedc (reduced accuracy)	−/M1	Yes, (given cytogenetic result)		15, 20 qter	6p dup, 8 (MeII)		Paternal monosomy 15

For chromosomal analysis: MeI/MeII meiosis I/II, qter terminal portion of long arm of the chromosome, dup duplication, all chrs all chromosomes

For Karyomap analysis: P1 paternal haplotype 1, P2 paternal haplotype 2, M1 maternal haplotype 1; M2 maternal haplotype 2

^aLinked marker alleles in bold are the ones associated with the mutant FBN1 allele

^bNote an allele was originally determined to be present at 180 bp but, after subsequent analysis, determined to be an artefact

^cAlthough determined as not carrying the mutant Marfan allele, embryo not transferred for other (e.g. cytogenetic) reasons

^dThis apparent deletion was identified after retrospective closer analysis of Karyomapping traces. As call rates were low in this region, it is possible that the apparent deletion was a technical artefact