|
|
ChromosOmics
- Database
|
- sSMC derived from X in a 46 karyotype
-
FEMALE
|
Among
Turnersyndrome cases 6.6% carry an sSMC {308}
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 Essen, 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 Berlin, 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 by Dr. SW Cheung,
Houston, 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 by Dr. Lemmens, Aachen,
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 Essen, Germany
|
rX-
p11.22/
1-1 |
43 |
r(X)(p11.22q13.1)
aCGH 54.09-67.73 MB |
- |
+ |
+ |
n.a. |
n.a. |
{0}
provided by Dr. SW Cheung,
Houston, 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 by Dr. M. Petersen,
Athens, Greece |
rX-
p11.22/
6-1
|
66
|
r(X)(p11.2?2q21~22)
|
n.a.
|
+
|
+
|
+
|
+
|
{0}
provided by Dr. Mulatinho, Rios
de Janeiro, Brasil
|
rX-
p11.22/
7-1 |
43 |
r(X)(p11.22q22.3) |
+ |
+ |
+ |
+ |
- |
{0}
provided by Dr. Weimer, Kiel,
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 Essen 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 Essen 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 by Dr. Ruml, Belgrade,
Serbia
|
rX-
p11.21/
3-2 |
40 |
r(X)(p11.21q13) |
+ |
n.a. |
n.a. |
+ |
n.a. |
{0}
provided by Drs. Wagner, Stibbe,
Hannover, 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 Essen
|
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 Essen, 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}
case provided by Dr. Albrecht,
Essen |
rX-
p11.1/
2-1 |
40 |
r(X)(p11.1q11.2)
aCGH 58.45-63.54 MB |
+ |
- |
- |
- |
+ |
{0}
provided by Dr. Baldermann,
Halle |
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 by Dr. G. Josik, 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/
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 by Dr. Manolakis, 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 by Dr. Vilser, Jena, 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 by Dr. Wafa, Damascus, Syria |
minX-
p11.22/
2-1 |
- |
46,X,min(X)(:p11.22→q11.1:)[19]/
46,XX[20] |
- |
+ |
+ |
+ |
+ |
{0}
provided by Dr. Dufke, Tübingen, 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 by Dr. Kozlowski, Düsseldorf,
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 by Dr. Cramer, Essen, Germany |
minX-
p11.21/
2-2 |
57 |
min(X)(:p11.21→q13.3:) |
+ |
n.a. |
n.a. |
n.a. |
n.a. |
{0}
provided from Hamburg, 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 by Dr. Gillessen-Kaesbach,
Lübeck, 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 by a lab in Debrcin, 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 by Dr. Wag ner/Stibbe, Hannover,
Germany |
minX-
p11.1/
1-3 |
40 |
min(X)(:p11.1→q11.1:) |
- |
n.a. |
n.a. |
+ |
n.a. |
{0}
provided by Dr. Wafa, Damascus, Syria |
minX-
p11.1/
1-4 |
mos |
min(X)(:p11.1→q11.1:) |
- |
n.a. |
n.a. |
+ |
n.a. |
{0}
provided by Dr. Wafa, Damascus, Syria |
minX-
p11.1/
1-5 |
30 |
min(X)(:p11.1→q11.1:) |
- |
n.a. |
n.a. |
n.a. |
n.a. |
{0}
provided by Dr. Junge, Dresden, 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 Essen, 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 by Dr. Altus, Magdeburg, 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
Essen, 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 by Dr. Mehnert, Neu-Ulm, 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
Essen, 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 |
|
|
|