TL

ChromosOmics - Database

Icon by Leon Liehr

- sSMC derived from X in a 46 karyotype -
FEMALE

Among Turnersyndrome cases 6.6% carry an sSMC {308}

sSMC derived from X-chromosome	sSMC derived from Y-chromosome
ring shape sSMC(X)	inv dup shape sSMC(X)
centric minute shape sSMC(X)	undefined shape sSMC(X)
sSMC derived from chromosome ?	DISCLAIMER

References

In general 70% of sSMC carriers are clinically normal. The figures listed here
are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!
Also cases with multiple sSMC are more likely to lead to clinical aberrations than cases with one sSMC.

Specific abbreviations used on this sub-page:

ab = ascertained (long) before puberty
fd = fetal death
inf = infertile
n.a. = not available
top = termination of pregnancy

sSMC(X) with defined ring shape

case no.	cells with 45,X (%)	sSMC karyotype	XIST present?	lack of puberty/ amenorrhea	(develop-) mental retardation	short stature	others	Reference
rX- p22/ 1-1	80	r(X)(p2?2q13.?3)	+	n.a.	n.a.	+	n.a.	{0} provided from Germany
rX- p22.3/ 1-1	50	r(X)(p22.3q23)	+	n.a.	n.a.	+	+	{185}
rX- p22.3/ 2-1	60	r(X)(p22.3q24)	+	n.a.	n.a.	+	+	{185}
rX- p22.3/ 3-1	80	r(X)(p22.3q13.2)[?%]/ del(X)(q13.2)[?%]	+	n.a.	n.a.	+	+ maternal iso UPD	{272}
rX- p22.1/ 1-1	88	r(X)(p2?2.1q2?2.1)	+	n.a.	n.a.	+	+	{0} provided from Germany
rX- p21.2/ 1-1	61	r(X)(p21.2q24~25)	+	n.a.	-	+	+	{205} case 3
rX- p21.2/ 2-1	83	r(X)(p21.2q13.2)[6%]/ r(X)(p13q13.2)[5%]	-	n.a.	n.a.	+	+	{270} case KR
rX- p21/ 1-1	40	r(X)(p21q22)[35%]/ min(X)(p11.1q11.1)[25%]	- +	n.a.	+	+	+	{27} case 4
rX- p11.3~ 11.4/ 1-1	79	r(X)(p11.3~11.4q13.3)[19%]/ r(X;X)(p11.3~11.4q13.3::p11.3~11.4q13.3)[2%]	+	n.a.	+	+	+	{259} case rX-p11.3~11.4/1-1
rX- p11.3/ 1-1	90	r(X)(p11.3q22)[7%]/ min(X)(p11.1q11.1)[3%]	- +	n.a.	-	+	-	{27} case 5
rX- p11.3/ 2-1	17	r(X)(p11.3q21.33) aCGH 43.25-96.40 MB	+	n.a.	+	n.a.	n.a.	{0} provided from USA
rX- p11.3/ 3-1	52	r(X)(p11.3q21.33)	n.a.	n.a.	n.a.	n.a.	prenatal	{331} case 22
rX- p11.2/ 3-1 before by mistake rX-p11.2/2-1	80	r(X)(p11.3q12) aCGH 44.19-64.59 MB	+	n.a.	+	+	+	{259} case rX-p11.2/2-1 {0}
rX- p11.23/ 1-1	82 (amnio)	r(X)(p11.23q11.2)[16%]/ dic(X)(p11)[2%]	-	+	-	+	+	{49}
rX- p11.23/ 2-1	71	r(X)(p11.23q21)	n.a.	n.a.	n.a.	+	n.a.	{267} case 2
rX- p11.2?3/ 1-1	66	r(X)(p11.2?3q13.3)	+	+	+	+	+	{0} provided from Germany
rX- p11.2~ 11.3/ 1-1	11	r(X)(p11.2~p11.3q21)[66%] /min(X)(p11.2~p11.3q21)[23%] aCGH 44.22-81.07 MB	+	n.a.	n.a.	+	+	{259} case rX-p11.2~11.3/1-1 {0}
rX- p11.23/ 1-1	35~57	r(X)(p11.23q21.1)	+	n.a.	-	+	n.a.	{319} case 92568
rX- p11.2?2/ 1-1	60	r(X)(p11.2?2q21.?1)[3] r(X)(::p11.2?2→q21.?1::q21.?1→p11.2?2::)[5]	-	n.a.	n.a.	n.a.	+	{0} provided from Germany
rX- p11.22/ 1-1	43	r(X)(p11.22q13.1) aCGH 54.09-67.73 MB	-	+	+	n.a.	n.a.	{0} provided from USA
rX- p11.22/ 2-1	73	r(X)(p11.22q10)	-	n.a.	n.a.	+	n.a.	{270} case CRH
rX- p11.22/ 3-1	50	r(X)(p11.22q12)	-	n.a.	n.a.	+	n.a.	{270} case CL
rX- p11.22/ 4-1	12	r(X)(p11.22q11.2)	-	n.a.	n.a.	+	n.a.	{270} case GB2
rX- p11.22/ 5-1	?%	r(X)(p11.2?2q13.3)	n.a.	n.a.	n.a.	n.a.	n.a.	{0} provided from Greece
rX- p11.22/ 5-2	85%	r(X)(p11.2?2q13.?3)	n.a.	n.a.	n.a.	n.a.	n.a.	{0} provided from Brazil
rX- p11.22/ 6-1	66	r(X)(p11.2?2q21~22)	n.a.	+	+	+	+	{0} provided from Brasil
rX- p11.22/ 7-1	43	r(X)(p11.22q22.3)	+	+	+	+	-	{0} provided from Germany
rX- p11.22/ 8-1	7 and mar1(X),+mar2(X)[49] mar1(X)[29]/ mar2(X)[15]	mar 1: min(X)(:p11.2?2->q11.1:) mar2: +r(X)(::p11.1->q13.?3::)	n.a.	n.a.	n.a.	n.a.	newborn	{0} provided from Germany
rX- p11.22/ 9-1	28	r(X)(p11.2q22.1)	n.a.	n.a.	n.a.	n.a.	prenatal	{331} case 7
rX- p11.22~11.21/ 1-1	62	r(X)(:p11.22~11.21->q21.33~22.1:)	n.a.	n.a.	n.a.	+	3y	{0} provided from Germany
rX- p11.21/ 1-1	33	r(X)(p11.21q13.2)	+	+	-	+	+	{2}
rX- p11.21/ 2-1	40	r(X)(p11.21q21.2)	+	n.a.	n.a.	+	+	{259} case rX-p11.21/2-1
rX- p11.21/ 2-2	55	r(X)(p11.21q21.2)	n.a.	n.a.	n.a.	n.a.	n.a.+	{331} case 17
rX- p11.21/ 3-1	36	r(X)(p11.21q13)	+	+	+	+	+	{0} provided from Serbia
rX- p11.21/ 3-2	40	r(X)(p11.21q13)	+	n.a.	n.a.	+	n.a.	{0} provided from Germany
rX- p11.21/ 4-1	0 in 54 XX,+mar in 16 no mar and XX	r(X)(p11.21q13.1)	n.a.	n.a.	n.a.	n.a.	prenatal	{331} case 12
rX- p11.21/ 4-1	72	r(X)(p11.21q21.1)	+	n.a.	n.a.	n.a.	prenatal	{316} case 12
rX- p11.2/ 1-1	16	r(X)(p11.2q13)	+	+	-	+	+	{259} case rX-p11.2/1-1
rX- p11.2/ 2-1 (new)	77	r(X)(p1?1.2q13.?3)	+	+	+	+	+	{0} provided from Germany
rX- p11.2/ 3-1	43	r(X)(p11.2q21)	+	n.a.	n.a.	n.a.	n.a.	{0}
rX- p11.2/ 3-2	52	r(X)(p11.2q21)	+	n.a.	n.a.	n.a.	+	{0} provided from Germany
rX- p1/ 1-1	-	r(X)(p1q1)	n.a.	n.a.	n.a.	+	+	{36}
rX- p11/ 1-2	22	r(X)(?p11q13)[76%]/ r(X)(?p11q13)x2[2%]	+	+	-	+	+	{46}
rX- p11/ 2-1	50	r(X)(p11q11)	-	n.a.	n.a.	+	+	{185}
rX- p11/ 2-2	97	r(X)(p11q11)	-	n.a.	n.a.	+	+	{185}
rX- p11/ 2-3	+ (% n.a.)	r(X)(p11q11)	-	n.a.	n.a.	+	+	{185}
rX- p11/ 2-4	10	r(X)(p11q11)	-	-	-	+	+	{208}
rX- p11/ 2-5	70	r(X)(p11q11)	-	n.a.	n.a.	+	n.a.	{270} case KW
rX- p11/ 2-6	89	r(X)(p11q11)	-	n.a.	n.a.	+	n.a.	{270} case GB1
rX- p11/ 3-1	24	r(X)(p11q12)	-	n.a.	n.a.	n.a.	prenatal	{326}
rX- p11.1/ 1-1	56	r(X)(p11.1q24)	+	-	-	+	+	{0} provided from Germany
rX- p11.1/ 1-2	94	r(X)(p11.1q24)	+	n.a.	n.a.	n.a.	n.a.	{0} provided from Greece
rX- p11.1/ 2-1	40	r(X)(p11.1q11.2) aCGH 58.45-63.54 MB	+	-	-	-	+	{0} provided from Germany
rX- p11.1/ 3-1	80	r(X)(p11.1q25) aCGH 54.91-128.50 MB	+	n.a.	+	+	+	{266} case 1
rX- p11.1/ 4-1	83	r(X)(p11.1q12~13.1)	-	n.a.	n.a.	+	n.a.	{270} case RT
rX- p11.1/ 5-1	60	45,X[26]/ 46,X,r(X)(::p11.1→q21::)[7]/ 46,X,min or del(X) (::p11.1→q11.1::)[4]/ 46,X,r(X;X) (::p11.1→q21::q21→p11.1::)[3]	+	+	n.a.	+	n.a.	{0} provided from Serbia
rX- p11.1/ 6-1	70	r(X)(p11.1q21.1)	+	+	+	n.a.	seizures	{208}
rX- p11.1/ 6-2	0	r(X)(p11.1q21.1)	n.a.	n.a.	n.a.	n.a.	prenatal TOP	{331} case 11
rX- p11.1/ 7-1	30	r(X)(p11.1q13.2) aCGH: also 15q13.3 deletion of 1.84Mb	-	n.a.	+	+	+	{302}
rX- p11.1/ 7-2	33 23% with 46,XX	r(X)(p11.1q13.2)	-	n.a.	n.a.	n.a.	n.a.	{0} provided from Germany
rX- p11.1/ 8-1	48	r(X)(p11.1q21.1)	+	n.a.	n.a.	n.a.	prenatal	{316} case 11
rX- p11.1/ 9-1	~50-68	r(X)(p11.1q21.31) bp in q at 87.7Mb	+	n.a.	n.a.	n.a.	prenatal	{323} case 2
rX- p11.1/ 10-1	30	r(X)(p11.1q13.3)	n.a.	n.a.	n.a.	n.a.	prenatal	{331} case 21

sSMC(X) with ring shape (not well characterized)

case no.	cells with 45,X (%)	sSMC karyotype	XIST present?	lack of puberty/ amenorrhea	(develop-) mental retardation	short stature	others	Reference
urX- 1	52	r(X)	n.a.	+	+	+	+	{1} case 1
urX- 2	80	r(X)	n.a.	+	-	+	(+)	{1} case 2
urX- 3	70	r(X)	n.a.	+	-	+	-	{1} case 5
urX- 4	50 (amnio)	r(X)	n.a.	n.a.	n.a.	n.a.	fd	{1} case 16
urX- 5	- (amnio)	r(X)	n.a.	n.a.	n.a.	n.a.	fd	{1} case 17
urX- 6	27	r(X)	n.a.	-	+	+	+	{1} case 20
urX- 7	13	r(X)	n.a.	-	+	+	+	{1} case 21
urX- 8	76	r(X)	n.a.	-	n.a. (ab)	- (ab)	+	{1} case 22
urX- 9	66	r(X)	n.a.	+		+	+	{6} case 1
urX- 10	70	r(X)	n.a.	+	+	+	+	{6} case 3
urX- 11	60 (amnio)	r(X)	+	n.a.	n.a.	n.a.	top	{69}
urX- 12	23 (amnio)	r(X)	-	n.a.	n.a.	n.a.	top	{69}
urX- 13	77	r(X)	n.a.	n.a.	n.a.	n.a.	+	{11} case 1
urX- 14	50	r(X)	+	+	n.a.	+	+	{11} case 2
urX- 15	17	r(X)	-	+	+	+	+	{13}
urX- 16	50	r(X)	n.a.	n.a.	(-)	+	n.a.	{21; 22}
urX- 17	50	r(X)	n.a.	n.a.	+	+	+	{12} case CL
urX- 18	7	r(X)	n.a.	n.a.	-	+	+	{25} case 1
urX- 19	11 (amnio)	r(X)	n.a.	n.a.	n.a.	n.a.	fd	{27} case 6
urX- 20	72	r(X)	n.a.	+	+	+	+	{30}
urX- 21	83	r(X)	n.a.	n.a.	+	+	+	{33}
urX- 22	60	r(X)	n.a.	n.a.	+	+	+	{33}
urX- 23	72 (amnio)	r(X)	n.a.	n.a.	n.a.	n.a.	top	{38}
urX- 24	85	r(X)	n.a.	+	n.a.	+	+	{40; 54, case 12}
urX- 25	15	r(X)	n.a.	n.a.	+	+	+	{41}
urX- 26	51	r(X)	n.a.	+	-	+	+	{43}
urX- 27	14	r(X)	n.a.	+	+	-	+	{43}
urX- 28	87	r(X)	n.a.	n.a.	-	+	+	{43}
urX- 29	36	r(X)	n.a.	n.a.	-	+	-	{43}
urX- 30	80	r(X)	n.a.	n.a.	-	+	+	{43}
urX- 31	49	r(X)	+	n.a.	+	+	+	{44}
urX- 32	85	r(X)	n.a.	n.a.	+	+	+	{44}
urX- 33	95	r(X)	n.a.	n.a.	-	+	+	{72}
urX- 34	60	r(X)	n.a.	n.a.	n.a.	+	+	{45}
urX- 35	40	r(X)	n.a.	n.a.	+	+	+	{15} as well in {10; 14; 21, 22 - numbering of cases not the same}
urX- 36	78	r(X)	n.a.	n.a.	+	n.a.	+	{15} as well in {10; 14; 21, 22 - numbering of cases not the same}
urX- 37	79	r(X)	-	n.a.	+	n.a.	+	{15} as well in {10; 14; 21, 22 - numbering of cases not the same}
urX- 38	20	r(X)	-	n.a.	+	+	+	{15} as well in {10; 14; 21, 22 - numbering of cases not the same}
urX- 39	70	r(X)	n.a.	n.a.	+	n.a.	+	{15} as well in {10; 14; 21, 22 - numbering of cases not the same}
urX- 40	79	r(X)	n.a.	n.a.	+	n.a.	+	{15} as well in {10; 14; 21, 22 - numbering of cases not the same}
urX- 41	32	r(X)	n.a.	n.a.	+	n.a.	+	{70} case DM
urX- 42	88	r(X)	n.a.	+	+	+	+	{70} case SB
urX- 43	32	r(X)	n.a.	n.a.	+	+	+	{53}
urX- 44	37	r(X)	+	n.a.	+	+	+	{64}
urX- 45	30	r(X)	n.a.	+	-	+	+	{67} case 2
urX- 46	67	r(X)	n.a.	+	-	+	+	{106} case 1
urX- 47	70	r(X)	n.a.	+	+	+	+	{106} case 3
urX- 48	+ (% n.a.)	r(X)	n.a.	n.a.	n.a.	+	+	{138}
urX- 49	40	r(X)	n.a.	+	-	+	+	{148} case 3
urX- 50	3	r(X)	n.a.	+	n.a.	+	+	{168}
urX- 51	3	r(X)	n.a.	+	n.a.	+	+	{168}
urX- 52	27	r(X)	n.a.	+	n.a.	+	+	{168}
urX- 53	86	r(X)	n.a.	n.a.	n.a.	n.a.	+	{177}
urX- 54	75	r(X)	n.a.	n.a.	+	+	+	{178}
urX- 55	65	r(X)	n.a.	n.a.	n.a.	+	+	{179} case MW
urX- 56	59	r(X)	n.a.	n.a.	n.a.	+	+	{179} case ML
urX- 57	58	r(X)	n.a.	n.a.	n.a.	+	+	{180} case 5-CM
urX- 58	96	r(X)	n.a.	n.a.	n.a.	+	+	{185}
urX- 59	~5	r(X)	n.a.	n.a.	n.a.	+	+	{187} case 44
urX- 60	+ (% n.a.)	r(X)	+	n.a.	n.a.	n.a.	top	{191} case M-4
urX- 61	+ (% n.a.)	r(X)	+	n.a.	n.a.	n.a.	top	{191} case M-6
urX- 62	18	r(X)	n.a.	+	-	+	+	{196} case 12
urX- 63	62	r(X)	n.a.	+	-	+	+	{196} case 16
urX- 64	48	r(X)	n.a.	+	-	+	+	{196} case 17
urX- 65	34	r(X)	n.a.	+	-	+	+	{196} case 18
urX- 66	24	r(X)	n.a.	+	-	+	+	{196} case 19
urX- 67	44	r(X)	n.a.	+	-	+	+	{196} case 20
urX- 68	50	r(X)	n.a.	n.a.	+	+	+	{205} case 5
urX- 69	75	r(X)	n.a.	n.a.	-	+	+	{205} case 6
urX- 70	72	r(X)	n.a.	n.a.	-	+	+	{205} case 7
urX- 71	35	r(X)	n.a.	n.a.	-	+	+	{205} case 8
urX- 72	26	r(X)	n.a.	n.a.	-	+	+	{218} case 2
urX- 73	54	r(X)	n.a.	n.a.	+	+	+	{219} case 1
urX- 74	77	r(X)	n.a.	n.a.	-	+	+	{219} case 2
urX- 75	40	r(X)	+	n.a	+	+	+	{255}
urX- 76	+ (% n.a.)	r(X)	-	n.a	n.a	n.a	n.a	{257}
urX- 77	6	r(X) (const: 45,X,t(1;9)(cen;cen))	n.a.	n.a.	n.a.	+	n.a.	{285} case 1
urX- 78	78	r(X)	n.a.	n.a.	n.a.	n.a.	fetus	{303} case 6
urX- 79	68	r(X)	n.a.	+	+	+	n.a.	{304} 1 case
urX- 80	72	r(X)	n.a.	+	+	+	n.a.	{304} 1 case
urX- 81	80	r(X)	+	n.a.	n.a.	n.a.	fetus	{0} provided from Greece
urX- 82	35 (amnio)	r(X) 2 types	+ [&] -	n.a.	n.a.	n.a.	top	{69}
urX- 83	87	r(X)[8%]/ r1(X),r2(X)[5%]	n.a.	n.a.	+	+	+	{44}
urX- 84	10	r(X)[80%]/ large der(X)[10 ]	n.a.	+	+	+	+	{29}
urX- 85	2	r(X)[68]/ r(X)x2[30]	(+)	n.a.	+	n.a.	+	{15} as well in {10; 14; 21, 22 - numbering of cases not the same}
urX- 86	86	r(X)[7]/ r(X)x2[7]	-	n.a.	+	n.a.	+	{15} as well in {10; 14; 21, 22 - numbering of cases not the same}
urX- 87 to 88	n.a.	r(X)	n.a.	n.a.	n.a.	+	n.a.	{311} 2 cases
urX- 89 to 99	different mosaics	r(X) different breakpoints	n.a.	n.a.	n.a.	n.a.	n.a.	{321} 11 cases
urX- 100	50	r(X)	n.a.	+	n.a.	n.a.	+	{0} provided from Greece
urXmos- 1	+ (% n.a.)	mos r(X)/XX/r(X)x2	+	+	+	+	+	{3}
urXmos- 2	-	mos r(X) /i(Xq)/i(Xq),r(X)	n.a.	n.a.	(+)	+	+	{9}
urXmos- 3	+ (% n.a.)	r(X)/XX	+	n.a.	-	-	-	{181}
urXmos- 4	+ (% n.a.)	r(X)/ mar(X)/ r(X),mar(X)	+ & -	n.a.	n.a.	n.a.	n.a.	{182}
urXmos- 5 to 12	+ (% n.a.)	r(X)	n.a.	n.a.	2x DD; 6x normal	+	n.a.	{309} cases 3, 5, 6, 9, 11, 12, 13, 16

sSMC(X) with defined idic/ inv dup shape

case no.	cells with 45,X (%)	sSMC karyotype	XIST present?	lack of puberty/ amenorrhea	(develop-) mental retardation	short stature	others	Reference
iX- p11.1/ 1-1	30	idic(X)(:p11.1→q12::q12→q11.1:)[54%]/XX[16%]	-	+	-	+	+	{259} case iX-p11.1/1-1

sSMC(X) with defined centric minute shape

case no.	cells with 45,X (%)	sSMC karyotype	XIST present?	lack of puberty/ amenorrhea	(develop-) mental retardation	short stature	others	Reference
minX- p21?/ 1-1	56	min(X)(:p21→?q23:)	-	n.a.	n.a.	+	n.a.	{271} case 5
minX- p11.3/ 1-1	13	min(X)(:p11.3→q13.2:)	-	n.a.	+	+	+	{27} case 1
minX- p11.3/ 2-1	5	min(X)(:p11.3→q12:)	-	n.a.	+	+	+	{27} case 3
minX- p11.3/ 3-1	93, PBL (EKF- cellbank)	r(X)(::p11.3→q21.1::)[2]/ min(X)(:p11.3→q21.1:)[3]/ min(X)(:p11.21→q11.2:)[2]	-	+	n.a.	+	+	{0} provided from Germany
minX- p11.23/ 1-1	66	min(X)(:p11.23→q13.2:)	-	+	+	+	Dandy-Walker syndrome; hydrocephaly	{310}
minX- p11.22/ 1-1	40 mar in 50 and 46,XX in 10	min(X)(:p11.22→q13.3:)[9]/ r(X)(::p11.22→q13.3::)[1]	+	n.a.	-	+	-	{0} provided from Syria
minX- p11.22/ 2-1	-	46,X,min(X)(:p11.22→q11.1:)[19]/ 46,XX[20]	-	+	+	+	+	{0} provided from Germany
minX- p11.21/ 1-1	50	min(X)(:p11.21→q11.2:)	n.a.	n.a.	n.a.	n.a.	n.a.	{0} provided from Germany
minX- p11.21/ 2-1	37 and 46,XX in 35	min(X)(:p11.21→q13.3:)	+	n.a.	n.a.	n.a.	n.a.	{0} provided from Germany
minX- p11.21/ 2-2	57	min(X)(:p11.21→q13.3:)	+	n.a.	n.a.	n.a.	n.a.	{0} provided from Germany
minX- p11.21/ 3-1	37 and 46,XX in 35	min(X)(:p11.21→q13.2:)	+	n.a.	n.a.	+	just 14m at diagnoses	{319} case W09834
minX- p11.21/ 4-1	20	min(X)(:p11.21→q22.1:)	+	+	+	+	n.a.	{333}
minX- p11.2/ 1-1	-	min(X)(:p11.21→q10:)[12%]/ min(X)(:p11.21→q10::q10→p11.21:)[3%]/ XX[85%]	-	n.a.	-	-	-	{259} case minX-p11.2/1-1
minX- p11.2/ 2-1	9	min(X)(:p11.2→q12:)[18%]/ min(X)(:q12→p11.2::p11.2→q12:)[6%]/ XXX[5%]/XX[62%]	-	n.a.	n.a.	n.a.	+	{259} case minX-p11.2/2-1
minX- p11.2/ 2-2	66	min(X)(:p11.21→q12:)[2]/min(X)(:p11.21→q12::p11.1→q11.1:)[1]	-	n.a.	n.a.	n.a.	fd	{0} provided from Germany
minX- p11.2/ 3-1	53	min(X)(:p11.2→q13.2~13.3:)[8]/ min(X)(:q13.2~13.3→p11.2: :p11.2→q13.2~13.3:)[2]	+	+	-	+	+	{0} provided from Hungary
minX- p11.2/ 4-1	17	min(X)(:p11.2→q13)	+	n.a.	n.a.	n.a.	n.a.	{0} provided from Portugal
minX- p11?/ 1-1	89	min(X)(:p11?→q13.2:)	-	n.a.	n.a.	+	n.a.	{271} case 1
minX- p11?/ 2-1	+ (% n.a.)	min(X)(:p11→?q13:)	-	n.a.	n.a.	+	n.a.	{271} case 4
minX- p11.1/ 1-1	see +21-0X-1							{11} case 6
minX- p11.1/ 1-2	0 but 46,XX in 78,1%	min(X)(:p11.1→q11.1:)	-	n.a.	n.a.	n.a.	n.a.	{0} provided from Germany
minX- p11.1/ 1-3	40	min(X)(:p11.1→q11.1:)	-	n.a.	n.a.	+	n.a.	{0} provided from Syria
minX- p11.1/ 1-4	mos	min(X)(:p11.1→q11.1:)	-	n.a.	n.a.	+	n.a.	{0} provided from Syria
minX- p11.1/ 1-5	30	min(X)(:p11.1→q11.1:)	-	n.a.	n.a.	n.a.	n.a.	{0} provided from Germany
minX- p11.1/ 1-6	53	min(X)(:p11.1→q11.1:)	-	n.a.	n.a.	+	n.a.	{0} provided from Poland
minX- p11.1/ 1-7	45,X[7]/47,XX,+21[3]/46,XX[1]/46,X,+min(X)(:p11.1→q11.1:)[1]		-	n.a.	+	+	n.a.	{0} provided from Ecuador
minX- p11.1/ 1-8	61	min(X)(:p11.1→q11.1:)[7%] der(X)(pter→q22::q22→pter)[32%]	-	+	-	+	-	{0} provided from Uruguay
minX- p11.1/ 1-9	0	47,X,i(X)(q10),+min(X)(:p11.1→q11.1:)/ 46,X,i(X)(q10)	-	n.a.	-	+	-	{0} provided from Germany
minX- p11.1/ 2-1	60	min(:p11.1→q11::q11→p11.1 or q11→p11.1::p11.1→q11 or :q11→p11.1::q11→p11.1:)	-	n.a.	n.a.	+	+	{259} case minX-p11.1/2-1
minX- p11.1/ 3-1	46	min(X)(:p11.1→q13.2~13.3:)	+	n.a.	+	-	+	{259} case minX-p11.1/3-1
minX- p11.1/ 3-2	46	min(X)(:p11.1→q13.3:)	+	n.a.	n.a.	+	n.a.	{0} provided from Germany
minX- p11.1/ 3-3	63	min(X)(:p11.1→q13.?3:)	n.a.	n.a.	n.a.	n.a.	prenatal	{0} provided from Germany
minX- p11.1/ 3-4	76	min(X)(:p11.1→q13.2:)	+	n.a.	+	n.a.	n.a.	{0} provided from Germany
minX- p11.1/ 4-1	32 (amnion)	mar1a=min(X)(:p11.1→q11.21:)[9]/ mar1b=min(q11.21→p11.1::p11.1→q11.21)[4]/ mar1c=r(X)(::q11.21→p11.1::p11.1→q11.21: :q11.21→p11.1::p11.1→q11.21::)[1]/ mar2=min(X)(:p11.1→q11.1:)[10] complex mosaic: mar1a+mar2[6]/ mar1b+mar2[3]/ mar1c+mar2[1]/ mar1a[3]/mar1b[1]/mar2[1]	-	n.a.	n.a.	n.a.	+	{259} case minX-p11.1/4-1
minX- p11.1/ 5-1	+(% n.a.)	min(X)(:p11.1→q13.1:)	+	n.a.	n.a.	n.a.	top	{0} provided from Germany
minX- p11.1/ 6-1	85	min(X)(:p11.1→q22:)	+	n.a.	n.a.	n.a.	top	{290} case 27
minX- p11.1/ 7-1	0	47,X,+min(X)(:p11.1→q11.1:)x2	n.a.	n.a.	n.a.	n.a.	abortion	{0}
minX- p11.1/ 8-1	7	min(X)(:p11.1→q13:)	+	n.a.	n.a.	+	n.a.	{0} provided from Poland
minX- p11.1/ 9-1	61	min(X)(:p11.1→q12:)	-	n.a.	n.a.	+	n.a.	{0} provided from Poland
minX- p11.1/ 9-2	not provided	min(X)(:p11.1→q1?2:)	-	n.a.	n.a.	+	n.a.	{0} provided from Portugal
minX- p11.1/ 10-1	6 76% normal 46,XX	min(X)(:p11.1→q21.1:) hg19: 62,057,705-78,218,276	-	n.a.	n.a.	n.a.	n.a.	{292; 313} case 2
minX- p10/ 1-1	25	min(X)(:p10→q13.3:)	n.a.	n.a.	n.a.	n.a.	prenatal	{0} provided from Germany

sSMC(X) with centric minute shape (not well characterized)

case no.	cells with 45,X (%)	sSMC karyotype	XIST present?	lack of puberty/ amenorrhea	(develop-) mental retardation	short stature	others	Reference
uminX- 1	32	min(X)	n.a.	+	+	+	(+)	{1} case 3
uminX- 2	55	min(X)	n.a.	+	+	+	+	{1} case 4
uminX- 3	12 (amnio)	min(X)	n.a.	n.a.	n.a.	n.a.	fd	{1} case 10
uminX- 4	- (amnio)	min(X)	n.a.	n.a.	n.a.	n.a.	fd	{1} case 15
uminX- 5	43	min(X)	n.a.	-	+	+	+	{1} case 19
uminX- 6	40	min(X)	(+)	n.a.	-	+	+	{8} case A
uminX- 7	-	min(X)	n.a.	n.a.	+	+	+	{33}
uminX- 8	76	min(X)	n.a.	n.a.	+	+	+	{33}
uminX- 9	70	min(X)	n.a.	n.a.	-	+	-	{43}
uminX- 10	-	-	-	-	-	-	-	-
uminX- 11	17%	min(X)	n.a.	+	n.a.	+	n.a.	{307} case 1
uminX- 12 to 17	+ (% n.a.)	min(X)	n.a.	n.a.	+ in one case; - in 5 cases	+	n.a.	{309} cases 1, 2, 4, 7, 8, 17
uminX- 18	n.a.	min(X)	n.a.	n.a.	n.a.	+	n.a.	{311} 1 case

sSMC(X) with unclear shape (mar)

case no.	cells with 45,X (%)	sSMC karyotype	XIST present?	lack of puberty/ amenorrhea	(develop-) mental retardation	short stature	others	Reference
marX- 1	50	mar(X)	n.a.	+	n.a.	+	+	{18}
marX- 2	50 (amnio)	mar(X)	n.a.	n.a.	n.a.	n.a.	fd	{27} case 7
marX- 3	40	mar(X)	n.a.	+	n.a.	n.a.	n.a.	{28} case 8
marX- 4	50	mar(X)	n.a.	n.a.	+	+	n.a.	{28} case 9
marX- 5	20	mar(X)[50%]/ idic(X)[30%]	n.a.	+	n.a.	+	n.a.	{54} case 11
marX- 6	90	mar(X)	n.a.	+	-	+	-	{41}
marX- 7	65	mar(X)	n.a.	n.a.	-	+	+	{41}
marX- 8	28	mar(X)	n.a.	n.a.	n.a.	n.a.	top	{51} case 1
marX- 9	71	mar(X)	n.a.	-	-	+	+	{66}
marX- 10	83	mar(X)	n.a.	-	-	+	+	{66}
marX- 11	73	mar(X)	n.a.	(+)	-	+	+	{66}
marX- 12	23	mar(X)	n.a.	n.a.	+	+	+	{66}
marX- 13	64	mar(X)	n.a.	-	+	+	+	{66}
marX- 14	40	mar(X)	n.a.	-	-	+	+	{66}
marX- 15	41	mar(X)	n.a.	n.a.	+	+	+	{66}
marX- 16	95	mar(X)	n.a.	+	n.a.	+	+	{168}
marX- 17	82	mar(X)	n.a.	+	-	+	+	{196} case 10
marX- 18	95	mar(X)	n.a.	n.a.	n.a.	+	+	{231}
marX- 19	95	mar(X)	n.a. (unlikely that XIST present)	n.a.	n.a.	n.a.	+ (prenatal)	{258}
marX- 20 to 27	different mos states	mar(X)	n.a.	n.a.	n.a.	(+)	n.a.	{269} 7 cases
marX- 28	72	mar(X)	n.a.	n.a.	+	+	+	{273}
marX- 29	10	mar(X)(:p11.2→q11.1:)	n.a.	n.a.	+?	+?	n.a.	{274} case 29786
marX- 30	70 in PBL 19 in buccal muccosa	mar(X)(pter→p21.3: :p11.1→q11.1::q13.2:)	+	+	+	+	dysmorphism, seizures	{279} case 2
marX- 31	PBL: 12 light skin: 83 dark skin: 57	mar(X)(:p11.23→q11.2:)	-	n.a.	+	+	+	{299}
marX- 32	96	mar(X)	n.a.	+	+	+	n.a.	{303} case 7
marX- 33	n.a.	mar(X)	n.a.	+	+	+	n.a.	{322}
marX- 34 to 55	different mos states	mar(X)	n.a.	n.a.	n.a.	(+)	neuro- developmental disorders	{327} 12 cases
marX- 56	24	mar(X)(:p11.21→q21.1:)	n.a.	n.a.	n.a.	n.a.	prenatal TOP	{332} case 53
marX- 57	24	mar(X)(:p11.1→q21.31:)	n.a.	n.a.	n.a.	n.a.	prenatal TOP	{332} case 51
marX- 58	80	mar(X)(:p21.1→q22.2:)	n.a.	n.a.	n.a.	n.a.	prenatal TOP	{334} case 1
marX- 59	79	mar(X)(:p11.1→q22.1:) mar(X)(:p11.1→q13.2)	n.a.	n.a.	n.a.	n.a.	prenatal TOP	{334} case 3
marX- 60	76	mar(X)(:p11.21→q13.1:)	n.a.	n.a.	n.a.	n.a.	prenatal TOP	{335} case 4
marX- 61	88	mar(X)(:p11.3→q11.3:)	n.a.	n.a.	n.a.	n.a.	prenatal TOP	{335} case 7
marX- 62	n.a.	mar(X)(:p11.2→q21.1:)	n.a.	n.a.	n.a.	n.a.	prenatal TOP	{335} case 23
marX- 63	88	mar(X)(:p11.1→q21.31:)	n.a.	n.a.	n.a.	n.a.	prenatal TOP	{335} case 24