Table I.

Molecular genotyping results for the proband, her parents and six SAs.

Marker	Chromosomal band	Map start position (hg19)	Distance to centromere (cMa)	Proband mother	Proband father	Proband	SA5 69, XXY		SA10		SA11 69, XXX		SA16 69, XXX		SA17 69, XXY		SA18 69, XXY		Inferred partner genotype
DXS1003	Xp11.3	46419301		ab	a	aa	aa	ui	aaa	ui	aaa	ui	aaa	ui	aa	ui	aa	ui	a
DXS6941	Xp11.3	48235256		aa	a	aa	aa	ui	aaa	ui	aaa	ui	aaa	ui	aa	ui	aa	ui	a
AR	Xq11.2	66800000	1	bc	a	ab	bb	R	bbc	R	bbc	R	aac	R	aa	R	NA		c
D3S1271	3q12.3	100734730	1	bb	ab	ab	aab	ui	aab	ui	aaa	R	aab	R	aab	ui	bbb	R	ab
D5S822	5q11.1	50511131	<1	ab	ac	bc	bbb	R	bbb	R	bbc	ui	bbb	R	bcc	ui	ccc	R	bc
D12S87	12p11.2	30387939	<5	de	ab	be	dee	R	bbc	R	bbd	R	bbc	R	dee	R	cee	R	cd
D13S141	13q12.11	20724459	<5	ab	bb	ab	aab	ui	aaa	R	aab	ui	aaa	R	aaa	R	aaa	R	aa or ab
D13S175	13q12.11	20848380	<5	bc	cc	bc	bbc	R	bbb	R	abb	ui	bbb	R	bbb	R	bbb	R	ab or bb
D13S1236	13q12.11	22695996		be	cd	de	ade	N	aee	R	cee	R	aee	R	aee	R	aee	R	ac
D13S115	13q12.11	22842462		dd	ac	cd	bcd	N	bdd	R	ddd	R	bcd	N	bdd	R	bdd	R	bd
D13S232		23799762		ab	cd	bc	bcd	N	bbd	R	bbd	R	bcd	N	bbd	R	bbd	R	dd?
D16S403	16p12.2	23037651		dd	bc	bd	abd	N	abd	N	abb	R	abd	N	bbd	ui	bdd	ui	ab or ad
D16S401	16p12.1	24685957		ac	bc	cc	acc	ui	acc	ui	acc	ui	acc	ui	acc	ui	acc	ui	aa?
D16S3093	16p12.1	26745405		ab	bb	bb	bbd	ui	bbd	ui	bbd	ui	bbd	ui	bbc	ui	bbc	ui	cd
D16S753	16p11.2	31273504	<2	bd	cc	bc	NA		NA		acc	R	acc	R	ccc	R	bbc	R	ac
D16S3105	16q12.1	46792100	<2	aa	aa	aa	aaa	ui	aaa	ui	aaa	ui	aaa	ui	aaa	ui	aaa	ui	aa?
D16S3044	16q12.1	47437536	<2	bd	ab	bd	dde	R	dde	R	bbe	R	bbe	R	bbc	R	bcd	N	ce
D16S409	16q12.1	48775854		bb	ab	ab	bbb	R	bbb	R	aab	ui	aab	ui	aab	ui	abb	ui	ab or bb
D16S515	16q23.1	76517028		ab	cd	ad	acd	N	acd	N	acd	N	acd	N	aad	ui	aad	ui	cd or ac
D16S402	16q13.3	83293414		ad	cc	ac	abc	N	aac	ui	acc	ui	acc	ui	abc	N	abc	N	ab or bc
D18S1093	18q12.2	34019263		ad	cd	ad	acd	N	acd	N	abd	N	abd	N	acd	N	aac	R	bc
D18S1127	18q21.2	53371163		bd	ad	bd	dde	R	bde	N	bcd	N	cdd	R	bde	N	bbe	R	ce
D18S488	18q22.3	69404462		bd	ee	de	cde	N	cde	N	ade	N	cee	R	cde	N	ade	N	ac
D22S686	22q12.2	21393073		ab	ac	ac	aaa	R	aac	ui	aaa	R	aac	ui	aac	ui	aaa	R	aa or ac
D22S277	22q13.2	34543413		ad	bc	cd	cdd	ui	acd	N	cdd	ui	cdd	ui	acd	N	acd	N	ac or ad

For all cases and all informative centromeric markers (bolded), there was a reduction of maternal heterozygosity to homozygosity. Microsatellite genotyping results are designated by a letter with ‘a’ being the largest amplicon. For SAs, the transmission of maternal heterozygosity is indicated as N (non-reduced), R (reduced) or ui (uninformative).

^aCentimorgans.