Table 2

Results of investigated markers mapping to the duplicated regions

46,XX,dup(2)(q35q37)pat		46,XX,dup(2)(q35q37)mat			46,XX,dup(4)(p13p16)pat
Marker	M/P/F	Marker	M/P/F			Marker	M/P/F
D2S371	ab/b/bc	D2S1391	cd/b d /ab			D4S43	ab/ab/b
D2S355	ac/a d /bd	D2S118	bc/a b /ab			D4S127	b/ab/ab
D2S2192	a/a c /bc	D2S2189	bc/ab/ac			D4S3023	b/ a b c /ac
D2S325	ab/ab/ab	D2S355	ab/b/ab			D4S1599	b/ab/ac
D2S2274	b/ab/ab	D2S325	ab/bc/ac			D4S403	ab/ab/b
D2S2242	ac/bc/ab	D2S2208	ac/ a b/bc			D4S1546	cd/ ab d/ab
D2S2178	ac/bc/b	D2S2274	a/ a b/bc			D4S391	ac/ab/bd
D2S1385	ac/a c /bc	D2S2208	ac/ab/bc			D4S2950	ab/ab/b
D2S1369	ab/a/ab	D2S2178	ab/bc/c			D4S1627	ac/ab/bd
D2S157	bd/bc/ac	D2S1385	ab/bc/bc
D2S1380	a/a/a	D2S1369	ab/ab/ab
D2S1345	ad/ c d/bc	D2S157	ab/ab/ab
D2S164	ac/a c /bc	D2S371	bc/ b c/ac
D2S163	ab/ab/ab	D2S1380	ad/ac/bc
PAX3	a/a/a	D2S143	ac/bc/bc
D2S1363	b/ a b/ab	D2S163	ab/ab/ab
D2S159	ab/b/ab	D2S120	ab/ab/bc
D2S172	ab/ab/ab	D2S126	cd/a d /ab
D2S206	ab/b c /cd	D2S159	bc/ab/ab
D2S345	ab/a b /b	D2S172	abb/ab/ab
D2S125	a/a b /b	D2S206	ab/ac/ac
		D2S345	b/a b /a

46,XX,dup(4)(q25q33)mat		46,XX,dup(5)(q22q35)mat			46,XY,dup(6)(q21q22)mat
Marker	M/P/F	Marker	M/P/F			Marker	M/P/F
D4S427	b/ab/ac	D5S346	bc/a c /ab			D6S430	bc/a c /ab
D4S194	ad/ a c d /bc	D5S2098	bc/a bc /ac			D6S251	ab/ac/cd
D4S1615	bd/a bd /ac	D5S2057	a/ab/b			D6S275	ac/ac/bc
D4S175	ac/ac/ab	D5S816	ac/ac/bc			D6S300	ab/ac/bc
D4S2939	b/ab/ab	D5S393	ab/ab/a			D6S252	ab/b/b
D4S413	ab/ ab d/cd	D5S673	ab/ab/bc			D6S434	bc/ b c/ac
D4S1566	ab/ ab c/ac	D5S820	bc/a bc /ac			D6S268	cd/b d /ab
D4S1552	ac/bc/ab	D5S423	bd/a bd /ac			D6S302	c/a c /ab
		D5S400	a/a/ab			D6S261	bc/b c /ab
		D5S1456	ab/ab/bc			D6S407	ab/ b c/ac
		D5S429	ac/ a b c /ab			D6S262	ab/ac/c
		D5S498	ab/ab/b			D6S270	ac/ac/bc
		D5S2006	ab/b/b			D6S292	ac/bc/bd

46,XY,dup(5)(p14p15.3)/46,XY
Marker	M/P/F
D5S406	a/ab/b
D5S208	ad/ab/bc
D5S807	ab/b/b
D5S1963	a/ab/b
D5S1473	b/ab/a
D5S502	ac/a/a
D5S663	ab/bc/c

46,XY,dup(7)(q22q31)mat		46,XX,dup(8)(p10p23)mat, del(8)(p23p23.3)mat			46,XX,dup(8)(q22q24.3)pat
Marker	M/P/F	Marker	M/P/F	Deletion		Marker	M/P/F
D7S527	cd/a c /ab	D8S264	a/c/bc	mat del		D8S273	ab/ab/ac
D7S515	ab/b/bc	D8S262	bc/a/ab	mat del		D8S559	ab/a b /b
D7S496	bc/b c /ab	D8S1824	ac/a/ab	?		D8S521	ab/ab/a
D7S501	ab/ab/b	D8S1806	a/b/b	mat del		D8S556	b/ab/a
D7S523	ab/ab/ab	D8S201	b/b/ab	?		D8S281	ac/a b /b
D7S486	b/ b c/ac	D8S307	ab/b/bc	?		D8S522	bc/ab/ab
D7S522	a/a/ab	D8S439	ab/b/bc	?		D8S514	a/a b /b
CF-108	b/b/ab	D8S552	a/ a b/b			D8S266	bc/ a b/ab
CF-332	c/b c /ab	D8S133	bc/bc/ac			D8S508	b/b/b
CF-333	ab/ab/b	D8S261	ab/ab/b			D8S263	a/ac/bc
D7S495	bc/b/ac	D8S1145	a/ab/b			D8S557	a/a/a
D7S483	bc/a b /ab	LPL	ab/ ab c/bc			D8S529	ac/bc/b
		NEFL	bc/bc/ac			D8S256	b/ab/ab
		D8S505	ab/ab/bc			D8S1746	bc/ac/ac
		D8S322	bc/ b c/ac			D8S1710	ab/a c /c
		D8S136	ab/ab/bc			D8S537	ac/a c /bc
		D8S137	b/b/ab			D8S272	ab/b c /bc
		D8S87	ab/ab/ab			D8S274	ab/ab/ab
		ANK1	a/a/a
		PLAT	ac/ac/ab
46,XY,dup(9)(p13p24)pat		46,XX,dup(9)(p13p24)pat			46,XX,dup(10)(q22q26)
Marker	M/P/F	Marker	M/P/F			Marker	M/P/F
D9S1779	ab/a c /c	D9S178	ab/ab/a			D10S195	a/a/ab
D9S132	b/ab/ab	D9S132	b/b/ab			D10S2327	b/b/ab
D9S144	b/b/ab	D9S144	c/ac/ab			D10S1686	ac/ac/bc
D9S256	ac/ a c/ab	D9S256	a/a/a			D10S215	a/a/a
D9S269	a/a/ab	D9S269	ac/ b c/ab			D10S677	ab/bc/cd
D9S156	b/b c /ac	D9S285	bc/ b c/ab			D10S534	ab/ab/ab
D9S157	ac/c d /bd	D9S156	ab/a b /b			D10S562	ab/a/ab
D9S171	ab/a b /bc	D9S157	ab/a b /bc			D10S1237	a/a/a
D9S161	b/ a b c /ac	D9S162	ab/ab/bc			D10S209	ab/a/a
D9S1868	a/a b /ab	D9S171	b/b/ab			D10S1230	ac/bc/bc
D9S304	ab/a/ab	D9S161	ab/a c /cd			D10S1213	ab/bc/bc
		D9S1868	ac/bc/b			D10S590	a/a/a
		D9S104	ac/a b /b			D10S212	a/a/ab
		D9S304	bc/b d /ad
		D9S200	b/ a b/ab

46,XX,dup(11)(q13.2q13.4)pat		46,XX,dup(12)(q22q24.3)			46,XX,dup(14)(q21q21)
Marker	M/P/F	Marker	M/P/F			Marker	M/P/F
D11S4191	ac/a bc /bc	D12S1722	ab/b/b			D14S80	bc/bc/ab
D11S534	ab/ac/ac	D12S43	b/b/ba			D14S70	bc/bc/ab
D11S916	b/bc/ac	D12S81	ab/ab/ab			D14S75	ac/ac/bc
D11S527	bc/ac/ab	D12S1660	c/ac/ab			D14S288	b/ab/ac
D11S2002	ab/ a b c /ac	D12S1588	ab/ac/bc			D14S989	b/ab/ab
D11S901	ac/ac/ab	IGFI	ab/b/b			D14S1057	ab/ab/ab
D11S876	bc/bc/ac	D12S84	b/ab/a			D14S276	ab/ab/ab
		D12S79	a/a/a			D14S1064	b/ab/ab
		D12S342	ab/ab/ab			D14S274	ac/bc/bc
		D12S1675	ab/b/b			D14S750	b/ab/ac
		D12S1679	ac/ab/b			D14S290	ab/ab/bc
		D12S834	a/ab/ab			D14S63	ab/ab/bc
		D12S1714	b/ab/ab			D14S77	bc/ab/a
		D12S1723	b/b/ab			D14S42	cd/ac/ab
		D12S343	a/a/ab			D14S67	ac/ac/bc
		D12S1638	a/ab/b			D14S68	ab/bc/bc
		D12S357	a/a/a			D14S51	ac/ab/ab
						D14S62	ab/ac/c

46,XY,dup(15)(q13q13)		46,XX,dup(19)(q11q13)mat, del(19) (q13q13),del(16)(q21q21)mat			46,XY,dup(22)(q11.1q13.1)
Marker	M/P/F	Marker	M/P/F	Deletion		Marker	M/P/F
D15S113	a/a/a	-LIPE	ab/ab/bc			D22S264	ab/bc/bc
D15S122	ab/ac/c	D19S191	bc/bc/ab			D22S343	a/ac/bc
GABR3	ab/bc/c	D19S223	a/ab/b			D22S427	b/bc/ac
D15S217	ac/ab/bc	D19S900	ab/ab/bc			D22S941	bc/b/ab
D15S541	ab/b/ab	D19S913	ac/ab/ab			D22S944	ab/ab/ab
D15S542	bd/cd/ac	D19S219	a/ab/bc			D22S351	ab/bc/bc
D15S97	ab/ab/ac	MD	ac/ac/bc			D22S1638	bc/ac/ac
D15S11	ab/ac/c	APOC2	bc/ab/ab			D22S311	ad/ab/bc
		D19S412	bc/bc/ab			D22S306	ab/ab/bc
		D19S112	ab/ab/bc			D22S303	b/ab/a
46,XX,dup(17)(p10p13)pat		D19S866	ab/a/ac	?		D22S258	a/a/a
Marker	M/P/F	D19S574	ac/b/b	mat del		D22S315	ab/ab/bc
D17S1866	ac/a/ab	D19S246	bc/a/ac	mat del		D22S277	a/ac/bc
D17S926	ab/bc/cd	D19S206	b/a/ac	mat del		D22S274	ac/bc/b
D17S938	ac/a/ab	D19S888	b/c/ac	mat del
D17S520	ab/a b /bc	D19S180	ac/b/ab	mat del
D17S1875	ab/b c /cd	D19S572	ac/b/b	mat del
D17S969	ab/a/a	D19S254	ac/b/ab	mat del
D17S921	ab/ab/ab	D19S880	ab/b/ab	?
D17S261	a/ab/ab	D19S877	a/a/a	?
CHRNB1	bc/c/ac	D19S720	a/a/a	?
D17S122	b/ a b c /ac	D19S210	ab/a/ab	?

Results of analysis of microsatellite markers of the duplicated regions from all investigated cases. Markers fully or in part informative are underlined and in italics. Markers are ordered from p to q telomere. M = mother, P = patient, F = father.