|
|
ChromosOmics
- Database
|
- sSMC derived from Y in a 46 karyotype
-
MALE
|
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(Y) with defined
ring shape - male
|
case no.
|
cells with
45,X (%)
|
sSMC
karyotype
|
lack of puberty
|
(develop-)
mental
retardation
|
short
stature
|
others
|
References
|
m-rY-
p11.3/
1-1 |
8 |
r(Y)(p11.3q11.23) |
n.a. |
- |
+ |
inf |
{209} |
m-rY-
p11.3/
1-2 |
73 |
r(Y)(p11.3q11.2?3) |
n.a. |
- |
+ |
4y |
{0}
provided from Essen, Germany
|
m-rY-
p11.3/
2-1 |
27 |
r(Y)(p11.3q11.2) |
- |
- |
+ |
- |
{210} |
m-rY-
p11.3/
2-2 |
~80 |
r(Y)(p11.3q11.2)[1]/r(Y)(p11.3q11.2)x2)[2]/r(Y)(p11.3q11.2),r(Y;Y)(p11.3q11.2;p11.3q11.2)[1] |
n.a. |
n.a. |
+ |
n.a. |
{0}
provided by Marija Guc-Scekic,
Serbia |
m-rY-
p11.3/
2-3 |
70 |
r(Y)(p11.?3q11.2)[4]/
r(Y)(p11.?3q11.2p11.?3q11.2
p11.?3q11.2p11.?3q11.2)[1] |
n.a. |
n.a. |
+ |
n.a. |
{0}
provided by Dr. Wafa, Damascus,
Syria |
m-rY-
p11.3/
2-4 |
47 |
r(Y)(p11.3q11.2)[7]/
dic
r(Y;Y)(p11.3q11.2;p11.3q11.2)[3] |
n.a. |
n.a. |
n.a. |
n.a. |
{290}
case 29 |
m-rY-
p11.3/
3-1 |
5 |
r(Y)(p11.3q10) |
n.a. |
- |
+ |
inf |
{209} |
m-rY-
p11.3/
3-2 |
+
(% n.a.) |
r(Y)(p11.3q10) |
n.a. |
n.a. |
+ |
n.a. |
{0}
provided by Dr. Iourov, Moscow,
Russia |
m-rY-
p11.3/
3-3 |
20 |
r(Y)(p11.3q10)* |
n.a. |
n.a. |
n.a. |
n.a. |
{331}
case 25
|
m-rY-
p11.3/
4-1 |
40 |
r(Y)(p11.3q11.2?3;
q11.2?3p11.3)
aCGH: 6.74-14.46 MB |
- |
- |
+ |
n.a. |
{291}
case Sr-4 |
m-rY-
p11.3/
5-1
|
22
|
r(Y)(p11.3q12)
r(Y;Y)(p11.3q12;
p11.3q12) |
-
|
-
|
+
|
inf
|
{300}
|
m-rY-
p11.32/
1-1 |
38 |
r(Y)(p11.32q11.1) |
- |
- |
+ |
- |
{58} |
m-rY-
p11.32/
1-2
|
5
|
r(Y)(p11.32q11.1)
|
-
|
-
|
+
|
+
|
{60}
|
m-rY-
p11.32/
2-1 |
45 |
r(Y)(p11.32q11.21) |
- |
- |
+ |
inf |
{55} |
m-rY-
p11.32/
2-2
|
5 |
r(Y)(p11.32q11.21)
|
-
|
-
|
+
|
-
|
{58} |
m-rY-
p11.32/
2-3
|
-
|
r(Y)(p11.32q11.21)
|
-
|
-
|
+
|
-
|
{60}
|
m-rY-
p11.32/
3-1
|
-
|
r(Y)(p11.32q11.222)
|
-
|
-
|
-
|
inf
|
{55}
|
m-rY-
p11.32/
4-1
|
93
|
r(Y)(p11.32q11.223~11.23)[2]/
r(Y;Y)(p11.32q11.223~11.23
p11.32q11.223~11.23)[4] |
n.a. |
n.a. |
n.a. |
newborn |
{0}
provided by Dr. Schulz, Jena,
Germany |
m-rY-
p11.32/
5-1 |
0,
PBL
(EKF-
cellbank) |
inv
dup(Y)(q11.223)[10]/
r(Y)(::p11.32→p11.2:
:p11.2→p11.2::p11.2→p11.2:
:p11.1→q11.223::p11.31→p11.31::),
r(Y)(::p11.32→p11.2::p11.2→p11.2:
:p11.2→p11.2::p11.1→q11.21:
:q11.21→q11.21::q11.221→?q11.223:
:p11.31→p11.31::) |
n.a. |
n.a. |
n.a. |
DD,
MR at 4y |
{312}
case 15 |
m-rY-
p11.32/
6-1 |
40 |
r(Y)(p11.3?2q12) |
n.a. |
- |
+ |
n.a. |
{0}
provided Dr. Shukla, New Dehli,
India
|
m-rY-
p11.3/
1-1
|
11
|
r(Y)(p11.3.q11.21)
|
n.a.
|
n.a.
|
+
|
+
|
{56}
|
m-rY-
p11.3/
2-1
|
-
|
r(Y)(p11.3q11.22)
|
n.a. |
-
|
-
|
inf
|
{204}
|
m-rY-
p11.3/
3-1 |
30 |
r(Y)(p11.3q11.23) |
n.a. |
- |
- |
inf |
{276} |
m-rY-
p11.2/
1-1 |
+
(% n.a.) |
r(Y)(p11.2q11.2) |
n.a. |
- |
- |
inf |
{204} |
m-rY-
p11.2/
2-1 |
38 |
r(Y)(p11.?2q11.?23)[8%]/
46,XY[54%] |
n.a |
n.a |
n.a |
n.a |
{0}
provided Dr. M. Emmanouil,
Athens, Greece |
m-rY-
p11/
1-1 |
- |
r(Y)(p11q11) |
n.a |
- |
+ |
inf |
{207} |
|
sSMC(Y)
with ring shape (not well characterized) -
male |
case no.
|
cells with
45,X (%)
|
sSMC
karyotype
|
lack of puberty
|
(develop-)
mental
retardation
|
short
stature
|
others
|
References
|
m-urY-1
|
+ (% n.a.)
|
r(Y)
|
-
|
-
|
n.a.
|
+ (inf)
|
{4}
|
m-urY-2
|
-
|
r(Y)
|
+
|
+
|
-
|
n.a.
|
{7}
|
m-urY-3
|
-
|
r(Y)
|
-
|
-
|
-
|
-
|
{11} case
5 |
m-urY-4
|
-
|
r(Y)
|
+
|
+
|
+
|
+
|
{31}
|
m-urY-5
|
-
|
r(Y)
|
-
|
-
|
-
|
inf
|
{32} |
m-urY-6
|
-
|
r(Y)
|
-
|
-
|
+
|
-
|
{37}
|
m-urY-7
|
-
|
r(Y)
|
n.a.
|
-
|
+
|
+
|
{47} case
4 |
m-urY-8
|
-
|
r(Y)
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
{67}
|
m-urY-9
|
30
|
r(Y)
|
-
|
-
|
-
|
inf |
{140}
|
m-urY-10
|
-
|
r(Y)
|
-
|
-
|
-
|
inf
|
{146}
|
m-urY-11
|
-
|
r(Y)
|
n.a.
|
+
|
+
|
+
|
{147}
|
m-urY-12
|
17
|
r(Y)
|
n.a.
|
-
|
-
|
inf
|
{150}
|
m-urY-13
|
7
|
r(Y)
|
n.a.
|
-
|
+
|
inf
|
{151}
|
m-urY-14
|
47
|
r(Y)
|
n.a.
|
-
|
-
|
-
|
{184} case
3 |
m-urY-15
|
8
|
r(Y)
|
n.a.
|
-
|
n.a.
|
+
|
{186 }
|
m-urY-16
|
7
|
r(Y)
|
n.a.
|
-
|
+
|
inf
|
{199}
|
m-urY-17
|
-
|
r(Y)
|
n.a.
|
-
|
+
|
+
|
{216, 217}
|
m-urY-18
|
-
|
r(Y)(p11.2→q?)
|
n.a.
|
-
|
+
|
+
|
{259] case
m-urY-18 |
m-urY-19
|
21
|
r(Y), r(Y)
|
-
|
-
|
+
|
inf
|
{317}
|
m-urY-20
to 27 |
diff.
mosaics |
r(Y)
|
-
|
-
|
+
|
inf
|
{320}
cases 2, 7, 9-13, 15
|
m-urY-mos-1
|
24
|
r(Y)[58%]/dr(Y)[18%]
|
-
|
-
|
+
|
inf
|
{135}
|
m-urY-mos-2
|
18
|
r(Y)[74%]/dr(Y)[8]
|
-
|
-
|
-
|
inf
|
{165}
|
m-urY-mos-3
|
27 |
r(Y)[56%]/min(Y)[17%]
|
n.a.
|
- a.b.
|
- a.b.
|
+
|
{153} |
m-urY-mos-4
|
9
|
r(Y) - 4
variants of r |
-
|
-
|
+
|
-
|
{20}
|
|
sSMC(Y) with defined idic/ inv
dup shape – male |
case no.
|
cells with
45,X (%)
|
sSMC
karyotype
|
lack of puberty
|
(develop-)
mental
retardation
|
short
stature
|
others
|
References
|
m-iY-p11.3/
1-1 |
5
|
inv
dup(Y)(p11.3) |
n.a.
|
-
|
n.a.
|
inf
|
{221,
222} case M99 |
m-iY-p11.3/
1-2
|
- (amnio)
|
inv
dup(Y)(p11.3) |
n.a.
|
- (ab)
|
-
|
- (ab)
|
{191} case
2 |
m-iY-p11.3/
1-3 |
90
|
inv
dup(Y)(p11.3) |
n.a.
|
-
|
+
|
n.a.
|
{263} case
1 |
m-iY-p11.3/
1-4
|
60
|
inv
dup(Y)(p11.3) |
n.a.
|
-
|
+
|
n.a.
|
{0}
provided by Dr. Wafa, Damascus, Syria
|
m-iY-p11.32/
1-1 |
75 |
inv
dup(Y)(p11.32) |
+
|
-
|
n.a.
|
n.a.
|
{85}
|
m-iY-p11.32/
1-2
|
+ (% n.a.)
|
inv
dup(Y)(p11.32) |
-
|
n.a.
|
-
|
inf
|
{95}
|
m-iY-p11.32/
1-3
|
80
|
inv
dup(Y)(p11.32) |
n.a.
|
n.a.
|
n.a.
|
n.a.
|
{290} case
28 |
m-iY-p11.32/
1-4
|
-
|
inv
dup(Y)(p11.32) |
-
|
-
|
-
|
inf
|
{0}
provided M. Vesic, Belgrade, Serbia
|
m-iY-p11.32/
1-5
|
81
|
inv
dup(Y)(p11.32) |
-
|
-
|
+
|
inf
|
{295}
|
m-iY-p11.32/
1-6 |
83
|
inv
dup(Y)(p11.32) |
n.a.
|
n.a.
|
+
|
n.a.
|
{0}
provided from India
|
m-iY-p11.2/
1-1 |
77 |
inv
dup(Y)(p11.2)[21%]/
inv dup(Y)(p11.2)x2[1%]/
XY[1%] |
+
|
+
|
+
|
+
|
{237} case
1 |
m-iY-p11.2:
q11.221/
1-1 |
- |
der(Y)(pter→q11.221:
:p11.2→pter)
|
-
|
-
|
-
|
inf
|
{0}
provided from Essen, Germany
|
m-iY-p11.2:
q11.221/
2-1
|
- |
der(Y)(pter→q11.221:
:p11.21→pter)
|
-
|
-
|
-
|
pre
|
{325}
|
m-iY-p1/
1-1 |
-
|
inv
dup(Y)(p1) |
+
|
-
|
-
|
inf
|
{111}
|
m-iY-p1/
1-2
|
12
|
inv
dup(Y)(p1) |
+
|
-
|
-
|
inf
|
{112}
|
m-iY-p1/
1-3
|
40
|
inv
dup(Y)(p1) |
n.a.
|
-
|
-
|
n.a.
|
{125}
|
m-iY-p1/
1-4
|
45
|
inv
dup(Y)(p1) |
n.a.
|
-
|
+
|
-
|
{126}
|
m-iY-p1/
1-5
|
25
|
inv
dup(Y)(p1) |
n.a.
|
-
|
n.a.
|
n.a.
|
{127}
|
m-iY-p1/
1-6
|
+ (% n.a.) |
inv
dup(Y)(p1) |
n.a.
|
-
|
+
|
n.a.
|
{83}
|
m-iY-p1/
1-7
|
+ (% n.a.) |
inv
dup(Y)(p1) |
-
|
+
|
+
|
+
|
{88}
|
m-iY-p1/
1-8 |
7 |
inv
dup(Y)(p1) |
n.a.
|
-
|
-
|
inf
|
{214}
|
m-iY-p1/
2-1 |
4 |
inv
dup(Y)(p1)[76%]/
XY[1%]/
mar(Y)[19%] |
-
|
-
|
+
|
-
|
{132}
|
m-iY-p11/
1-1 |
40 |
inv
dup(Y)(p11) |
n.a.
|
-
|
+
|
+
|
{133}
|
m-iY-p11/
1-2 |
66
|
inv
dup(Y)(p11) |
-
|
-
|
+
|
inf
|
{135}
|
m-iY-p11/
1-3
|
+ (% n.a.) |
inv
dup(Y)(p11) |
n.a.
|
n.a.
|
+
|
+
|
{144}
|
m-iY-p11/
1-4 |
20 |
inv
dup(Y)(p11) |
n.a.
|
-
|
-
|
-
|
{189} case
2 |
m-iY-p11/
1-5 |
- |
inv
dup(Y)(p11) |
n.a.
|
+
|
+
|
+
|
{176} case
6 |
m-iY-p11/
1-6 |
16
|
inv
dup(Y)(p11) |
-
|
-
|
+
|
inf
|
{84} case
3 |
m-iY-p11/
1-7
|
51
|
inv
dup(Y)(p11) |
-
|
-
|
-
|
-
|
{294} case
3 |
m-iY-p11/
2-1 |
50 |
inv
dup(Y)(p11)[47%]/
inv dup(Y)(p11)x2[3%] |
+
|
-
|
+
|
+
|
{136}
|
m-iY-p11.1/
1-1 |
1 |
inv
dup(Y)(p11.1)[5%]/
XY[94%] |
n.a.
|
- ab
|
-
|
- ab
|
{197} case
2 |
m-iY-q1/
1-1 |
+ (% n.a.)
|
inv
dup(Y)(q1) |
n.a.
|
n.a.
|
n.a.
|
n.a.
|
{169}
|
m-iY-q1/
1-2
|
- |
inv
dup(Y)(q1) |
n.a.
|
-
|
-
|
-
|
{183}
|
m-iY-q1/
1-3 |
13 |
inv
dup(Y)(q1) |
n.a.
|
-
|
-
|
-
|
{189} case
5 |
m-iY-q1/
1-4
|
47 |
inv
dup(Y)(q1) |
n.a.
|
n.a.
|
n.a.
|
n.a.
|
{240}
|
m-iY-q1/
1-5 |
+ (% n.a.)
|
inv
dup(Y)(q1) |
n.a.
|
n.a.
|
n.a.
|
top
|
{241}
|
m-iY-q1/
1-6
|
70 |
inv
dup(Y)(q1) |
n.a.
|
n.a.
|
n.a.
|
+
|
{244}
|
m-iY-q1/
1-7 |
-
|
inv
dup(Y)(q1) |
n.a.
|
+
|
n.a.
|
+
|
{245}
|
m-iY-q1/
1-8
|
-
|
inv
dup(Y)(q1) |
n.a.
|
n.a.
|
n.a.
|
-
|
{247}
|
m-iY-q1/
1-9 |
- |
inv
dup(Y)(q1) |
n.a.
|
n.a.
|
n.a.
|
-
|
{247}
|
m-iY-q1/
1-10 |
- |
inv
dup(Y)(q1) |
-
|
-
|
-
|
inf
|
{238}
|
m-iY-q1/
2-1 |
10 |
inv
dup(Y)(q1)[40%]/
min(Y)(pter→q11.23:)[50%]
|
-
|
-
|
-
|
inf
|
{239} case
5 |
m-iY-q1/
2-2
|
71
|
inv
dup(Y)(q1)[26%]/
XY[3%] |
n.a.
|
-
|
-
|
inf
|
{224}
|
m-iY-q1/
2-3 |
33
|
inv
dup(Y)(q1)[66%]/
XYY[3%] |
n.a.
|
-
|
+
|
+
|
{188}
|
m-iY-q11/
1-1 |
+ (% n.a.) |
inv
dup(Y)(q11) |
+
|
-
|
+
|
n.a.
|
{101}
|
m-iY-q11/
1-2 |
-
|
inv
dup(Y)(q11) |
-
|
-
|
-
|
+
|
{63}
|
m-iY-q11/
1-3 |
- |
inv
dup(Y)(q11) |
-
|
+
|
+
|
-
|
{108} case
2 |
m-iY-q11/
1-4 |
+ (% n.a.)
|
inv
dup(Y)(q11) |
-
|
-
|
-
|
inf
|
{109}
|
m-iY-q11/
1-5 |
- |
inv
dup(Y)(q11) |
-
|
-
|
+
|
inf
|
{109}
|
m-iY-q11/
1-6 |
33
|
inv
dup(Y)(q11) |
+
|
+
|
-
|
n.a.
|
{134}
|
m-iY-q11/
1-7 |
-
|
inv
dup(Y)(q11) |
n.a.
|
+
|
n.a.
|
+
|
{161}
|
m-iY-q11/
1-8 |
30
|
inv
dup(Y)(q11) |
n.a.
|
n.a.
|
n.a.
|
+
|
{164}
|
m-iY-q11/
1-9 |
90
|
inv
dup(Y)(q11) |
n.a.
|
n.a.
|
n.a.
|
+
|
{164}
|
m-iY-q11/
1-10 |
-
|
inv
dup(Y)(q11) |
n.a.
|
-
|
+
|
inf
|
{176} case
7 |
m-iY-q11/
1-11
|
17 |
inv
dup(Y)(q11) |
n.a.
|
-
|
+
|
+
|
{176} case
15 |
m-iY-q11/
1-12
|
+ (% n.a.) |
inv
dup(Y)(q11) |
n.a.
|
n.a.
|
+
|
+
|
{225}
|
m-iY-q11/
1-13
|
+ (% n.a.) |
inv
dup(Y)(q11) |
n.a.
|
-
|
-
|
inf
|
{236}
|
m-iY-q11/
1-14
|
+ (% n.a.) |
inv
dup(Y)(q11) |
n.a.
|
-
|
-
|
inf
|
{236}
|
m-iY-q11/
1-15
|
24 (amnio) |
inv
dup(Y)(q11) |
n.a.
|
n.a.
|
n.a.
|
top
|
{197} case
8 |
m-iY-q11/
1-16
|
5
|
inv
dup(Y)(q11) |
n.a.
|
-
|
-
|
-
|
{197} case
4 |
m-iY-q11/
1-17
|
0 (amnio) |
inv
dup(Y)(q11) |
n.a.
|
n.a.
|
n.a.
|
n.a.
|
{293}
|
m-iY-q11/
1-18
|
0
|
inv
dup(Y)(q11) |
n.a.
|
n.a.
|
n.a.
|
n.a.
|
{0}
provided from Serbia
|
m-iY-q11/
1-19 |
0
|
inv
dup(Y)(q11) |
-
|
-
|
-
|
inf |
{320} case
4 |
m-iY-q11/
2-1 |
3 (amnio)
|
inv
dup(Y)(q11)[13%]/
XY[84%] |
n.a.
|
- ab
|
-
|
+
|
{197} case
3 |
m-iY-q11/
2-2 |
19 |
inv
dup(Y)(q11)[53%]/
inv dup(Y)(q11)x2[26%]/
XY[2%] |
-
|
-
|
+
|
inf
|
{113}
|
m-iY-q11/
2-3
|
38
|
inv
dup(Y)(q11)[8%]/
inv dup(Y)(q11)x2[4%]/
mar(Y)[50%] |
n.a.
|
n.a.
|
+
|
+
|
{23; 24}
|
m-iY-q11.1/
1-1 |
24 |
inv
dup(Y)(q11.1) |
n.a.
|
n.a.
|
+
|
-
|
{50}
|
m-iY-q11.1/
1-2 |
11
|
inv
dup(Y)(q11.1) |
-
|
-
|
-
|
inf
|
{74}
|
m-iY-q11.1/
2-1 |
32
|
inv
dup(Y)(q11.1;q11.23) |
n.a.
|
-
|
+
|
inf
|
{176} case
17 |
m-iY-q11.2/
1-1 |
+ (% n.a.) |
inv
dup(Y)(q11.2) |
n.a.
|
+
|
-
|
-
|
{103}
|
m-iY-q11.2/
1-2 |
+ (% n.a.)
|
inv
dup(Y)(q11.2) |
n.a.
|
-
|
+
|
inf
|
{105}
|
m-iY-q11.2/
1-3 |
18 |
inv
dup(Y)(q11.2) |
-
|
-
|
+
|
inf
|
{166}
|
m-iY-q11.2/
1-4
|
80
|
inv
dup(Y)(q11.2) |
n.a.
|
- |
-
|
-
|
{189} case
3 |
m-iY-q11.2/
1-5 |
~1 |
inv
dup(Y)(q11.2) |
n.a.
|
-
|
-
|
+
|
{197} case
5 |
m-iY-q11.2/
1-6 |
44
|
inv
dup(Y)(q11.2) |
n.a.
|
-
|
-
|
-
|
{197} case
6 |
m-iY-q11.2/
1-7 |
20 |
inv
dup(Y)(q11.2) |
n.a.
|
-
|
+
|
-
|
{197} case
7 |
m-iY-q11.2/
1-8 |
95 |
inv
dup(Y)(q11.2) |
n.a.
|
-
|
-
|
+
|
{197} case
10 |
m-iY-q11.2/
1-9
|
+ (% n.a. -
amnio) |
inv
dup(Y)(q11.2) |
n.a.
|
n.a.
|
n.a.
|
top
|
{197} case
11 |
m-iY-q11.2/
1-10 |
64 |
inv
dup(Y)(q11.2) |
n.a.
|
-
|
n.a.
|
inf
|
{221} case
M75 |
m-iY-q11.2/
1-11 |
6 |
inv
dup(Y)(q11.2) |
n.a.
|
-
|
n.a.
|
inf
|
{221} case
M103 |
m-iY-q11.2/
1-12 |
-
|
inv
dup(Y)(q11.2) |
n.a.
|
n.a.
|
n.a.
|
-
|
{246}
|
m-iY-q11.2/
1-13 |
47
|
inv
dup(Y)(q11.2) |
n.a.
|
n.a.
|
n.a.
|
n.a.
|
{0}
provided from Poland
|
m-iY-q11.2/
1-14 to 1-16
|
80 |
inv
dup(Y)(q11.2) |
-
|
-
|
-
|
inf
|
{297} case
1-3 |
m-iY-q11.2/
1-17 |
5
(amnio) |
46,X,inv
dup(Y)(q11.2)[92]/
46,XY[16] |
n.a.
|
n.a.
|
n.a.
|
prenatal
|
{0}
provided by Dr. Steuernagel, Oldenburg,
Germany |
m-iY-q11.2/
1-18
|
- |
inv
dup(Y)(q11.2)[21]/del(Y)(q11.2)
|
-
|
-
|
-
|
-
|
{306}
|
m-iY-q11.2/
2-1 |
49 |
inv
dup(Y)(q11.2)[47]/
inv dup(Y)(q11.2)x2[4]
|
n.a.
|
-
|
n.a.
|
inf
|
{286}
|
m-iY-q11.2/
3-1 |
22 |
inv
dup(Y)(q11.2)[63]/min(Y)(:p11.3→q11.1:)[10]/inv
dup(Y)(q11.2),min(Y)(:p11.3→q11.1:)[5]
|
-
|
-
|
n.a.
|
inf
|
{0}
provided by Dr. Huhle, Leipzig, Germany
|
m-iY-q11.2/
4-1 |
45,X[13]/
46,X,inv
dup(Y)(q11.2)[10]/46,X,del(Y)(q11.2)[3]/46,X,r(Y)(p11.3q11.2)[1]/46,X,der(Y)(:q11.2→p11.3::q11.2→pter)[1]/46,X,der(Y)(:q11.2→p11.3::p11.3→q11.2:)[1]/47,X,inv
dup(Y)(q11.2),+inv dup(Y)(q11.2)[1]
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
{0}
provided by Dr. Pauli, Göttingen. Germany
|
m-iY-q11.21/
1-1 |
-
|
inv
dup(Y)(q11.21) |
n.a.
|
+
|
-
|
+
|
{68}
|
m-iY-q11.21/
1-2
|
- |
inv
dup(Y)(q11.21) |
n.a.
|
(+)
|
-
|
-
|
{68}
|
m-iY-q11.21/
1-3 |
- |
inv
dup(Y)(q11.21) |
n.a.
|
+
|
-
|
-
|
{68}
|
m-iY-q11.21/
1-4
|
4
|
inv
dup(Y)(q11.21)[95]/
inv dup(Y)(q11.21)x2[1]
|
-
|
-
|
-
|
+ (small
penis and testis) |
{289}
|
m-iY-q11.21/
1-5 |
-
|
inv
dup(Y)(q11.2?1) |
-
|
-
|
-
|
prenatal |
{0}
provided from Greece
|
m-iY-q11.21/
1-6 |
72
|
inv
dup(Y)(q11.2?1) |
-
|
-
|
-
|
prenatal |
{0}
provided from Essen, Germany
|
m-iY-q11.212/
1-1 |
68 |
inv
dup(Y)(q11.212) |
n.a.
|
-
|
-
|
+
|
{239} case
3 |
m-iY-q11.22/
1-1 |
+ (% n.a.) |
inv
dup(Y)(q11.22) |
-
|
-
|
+
|
+
|
{104}
|
m-iY-q11.22/
1-2 |
-
|
inv
dup(Y)(q11.22) |
n.a.
|
-
|
+
|
inf
|
{176} case
10 |
m-iY-q11.22/
1-3
|
14, PBL
(EKF-
cellbank) |
inv
dup(Y)(q11.221)[89]/
inv dup(Y)(q11.221)x2[8]/
der(Y)(pter→q11.21:
:q11.21→q11.21:
:q11.221→q11.222:
:q11.222→q11.221:
:q11.21→q11.21:
:q11.21→pter)x2[24] |
+
|
+
|
+
|
-
|
{259} case
m-iY-q11.22/1-3
{312} case 14 |
m-iY-q11.22/
1-4 |
29
|
inv
dup(Y)(q11.22) |
n.a.
|
-
|
+
|
inf
|
{176} case
12 |
m-iY-q11.22/
1-5
|
+ (% n.a.) |
inv
dup(Y)(q11.22) |
n.a.
|
-
|
+
|
inf
|
{282} case
1 |
m-iY-q11.22/
1-6 |
+ (% n.a.)
|
inv
dup(Y)(q11.22) |
n.a.
|
-
|
+
|
inf
|
{282} case
2 |
m-iY-q11.22/
1-7
|
0
|
inv
dup(Y)(q11.22) |
-
|
-
|
-
|
inf
|
{297} case
5 |
m-iY-q11.22/
1-8 |
0 |
inv
dup(Y)(q11.22) |
-
|
-
|
-
|
inf
|
{297} case
6 |
m-iY-q11.22/
1-9
|
80 |
inv
dup(Y)(q11.22) |
-
|
-
|
-
|
inf
|
{297} case
8 |
m-iY-q11.22/
1-10 |
90 |
inv
dup(Y)(q11.22) |
-
|
-
|
-
|
inf
|
{297} case
9 |
m-iY-q11.22/
1-11
|
60
|
inv
dup(Y)(q11.22) |
-
|
-
|
-
|
inf
|
{297} case
11 |
m-iY-q11.22/
1-12 |
55
|
inv
dup(Y)(q11.22) |
-
|
-
|
-
|
inf
|
{297} case
12 |
m-iY-q11.22/
1-13
|
70 |
inv
dup(Y)(q11.22) |
-
|
-
|
-
|
inf
|
{297} case
13 |
m-iY-q11.22/
1-14 |
50
|
inv
dup(Y)(q11.22) |
-
|
-
|
-
|
inf
|
{305}
|
m-iY-q11.22/
1-15
|
66
|
inv
dup(Y)(q11.22) |
-
|
-
|
-
|
prenatal
|
{314}
|
m-iY-q11.22/
2-1 |
0 |
inv
dup(Y)(q11.22)[91%]/
inv dup(Y)(q11.22)x2[9%]
|
-
|
-
|
-
|
inf
|
{297} case
7 |
m-iY-q11.22/
3-1 |
24
|
inv
dup(Y)(q11.22)[70%]/
min(Y)[6%] |
-
|
-
|
-
|
inf
|
{297} case
10 |
m-iY-q11.22/
4-1
|
0
|
inv
dup(Y)(q11.22)x2 |
n.a.
|
n.a.
|
n.a.
|
n.a.
|
{0}
provided by Dr. J. Ruml, Belgrade, Serbia
|
m-iY-q11.221/
1-1 |
78 |
inv
dup(Y)(q11.221) |
n.a.
|
-
|
+
|
azoospermia
|
{0}
provided by Dr. Cremer, Düsseldorf,
Germany |
m-iY-q11.221/
1-2 |
40 |
inv
dup(Y)(q11.221) |
n.a.
|
n.a.
|
n.a.
|
prenatal;
child born |
{0}
provided by Dr.Eiben, Essen, Germany
|
m-iY-q11.221/
1-3
|
46 |
inv
dup(Y)(q11.221) |
n.a.
|
n.a.
|
n.a.
|
prenatal
|
{316} case
13
|
m-iY-q11.221/
1-4 |
0 - but 48%
XY
|
inv
dup(Y)(q11.221) |
n.a.
|
n.a.
|
n.a.
|
prenatal
|
{332}
case 55
|
m-iY-q11.221
~11.223/
1-1 |
50 |
inv
dup(Y)(q11.221~q11.223)[35%]/
inv dup(Y)(q11.221~q11.223)x2[15%]
|
n.a.
|
n.a.
|
n.a.
|
genital
abnormalities |
{0}
provided by Polityko, Minsk, Belarus
|
m-iY-q11.222/
1-1 |
86 |
inv
dup(Y)(q11.222) |
n.a.
|
n.a.
|
n.a.
|
prenatal
|
{316} case
16
|
m-iY-q11.222/
1-2
|
83
|
inv
dup(Y)(q11.22)
bp ~20 Mb
|
-
|
-
|
-
|
prenatal,
TOP |
{323} case
3 |
m-iY-q11.23/
1-1 |
-
|
idic(Y)(q11.23),idic(Y)(q11)[77%]/
idic(Y)(q11)[23%] |
n.a.
|
+
|
n.a.
|
+
|
{254} case
2 |
m-iY-q11.23/
2-1 |
0
|
inv
dup(Y)(q11.23) |
-
|
-
|
+
|
inf
|
{296}
|
m-iY-q11.2?3/
1-1 |
50 |
inv
dup(Y)(q11.2?3) |
n.a.
|
n.a.
|
+
|
n.a.
|
{0}
provided from Hürth, Germany
|
m-iY-q11.2?3/
1-2 |
5 |
inv
dup(Y)(q11.2?3)
mar x2 in 27%
|
n.a.
|
n.a.
|
n.a.
|
inf
|
{0}
provided from Düsseldorf, Germany
|
m-iY-q12/
1-1 |
+ (% n.a.)
|
inv
dup(Y)(q12) |
n.a.
|
n.a.
|
+
|
n.a.
|
{100}
|
m-iY-q12/
1-2
|
+ (% n.a.) |
inv
dup(Y)(q12) |
n.a.
|
-
|
+
|
+
|
{102}
|
m-iY-q12/
1-3 |
+ (% n.a.)
|
inv
dup(Y)(q12) |
+
|
-
|
n.a.
|
inf
|
{174}
|
m-iY-q12/
1-4
|
74 |
inv
dup(Y)(q12) |
n.a.
|
-
|
n.a.
|
-
|
{189} case
1 |
m-iY-q12/
1-5 |
25
|
inv
dup(Y)(q12) |
n.a.
|
+
|
-
|
+
|
{239} case
8 |
m-iY-q12/
1-6
|
30 |
inv
dup(Y)(q12) |
n.a.
|
n.a.
|
n.a.
|
+ (spina
bifida and others) |
{264} 1
case |
m-iY-q12/
1-7
|
57
|
inv
dup(Y)(q12) |
n.a.
|
n.a.
|
n.a.
|
n.a.
|
{265} case
M2 |
m-iY-q12/
1-8
|
23
|
inv
dup(Y)(q12) |
n.a.
|
-
|
+
|
inf
|
{265} case
M3 |
m-iY-q12/
1-9
|
0
|
inv
dup(Y)(q12) |
-
|
-
|
-
|
inf
|
{0}
provided by BIOIATRIKI, Greece
|
m-iY-q12/
1-10
|
+ (% n.a.)
|
inv
dup(Y)(q12) |
n.a.
|
n.a.
|
n.a.
|
+
|
{280} 1
case |
m-iY-q12/
2-1 |
+ (% n.a.)
|
inv
dup(Y)(q12)/
inv dup(Y)(q12)x2 |
n.a.
|
n.a.
|
n.a.
|
n.a.
|
{100}
|
|
sSMC(Y)
with idic/ inv dup (not well characterized) -
male |
case no.
|
cells with
45,X (%)
|
sSMC
karyotype
|
lack of puberty
|
(develop-)
mental
retardation
|
short
stature
|
others
|
References
|
m-uiY-1
|
50
|
inv dup(Y)
|
-
|
-
|
-
|
-
|
{42}
|
m-uiY-2
|
50
|
inv dup(Y)
|
-
|
-
|
-
|
n.a.
|
{34}
|
m-uiY-3
|
+ (% n.a.)
|
inv dup(Y)
|
n.a.
|
n.a.
|
n.a.
|
+
|
{157} case
10 |
m-uiY-4
|
+ (% n.a.)
|
inv dup(Y)
|
n.a.
|
n.a.
|
n.a.
|
+
|
{157} case
14 |
m-uiY-5
|
+ (% n.a.)
|
inv dup(Y)
|
n.a.
|
n.a.
|
n.a.
|
+
|
{157} case
15 |
m-uiY-6
|
19
|
inv dup(Y)
|
n.a.
|
-
|
-
|
-
|
{197} case
9 |
m-uiYmos-1
|
16
|
inv
dup(Y)[79%]/
complex mos [5%] |
n.a.
|
-
|
-
|
inf
|
{158}
|
m-uiYmos-2
|
8 (amnion)
|
inv
dup(Y)[12%]/XY[80%] |
n.a.
|
-
|
-
|
+
|
{197} case
1 |
m-uiYmos-3
|
16
|
inv
dup(Y)[81%]/mos complex[3%]
|
-
|
-
|
-
|
inf
|
{35}
|
m-uiYmos-4
|
8
|
inv
dup(Y)[68%]/
inv dup(Y)x2[5%]/
mar(Y)[16%]/
mar(Y)x2[1%]/
inv dup(Y),mar(Y)[2%] |
-
|
-
|
+
|
-
|
{80}
|
m-uiYmos-5
|
+ (% n.a.)
|
inv dup(Y)/
mos XY/del(Y)(q) |
-
|
-
|
+
|
+ , inf
|
{97} case
2 |
|
sSMC(Y) with defined centric
minute shape - male |
case no.
|
cells with
45,X (%)
|
sSMC
karyotype
|
lack of puberty
|
(develop-)
mental
retardation
|
short
stature
|
others
|
References
|
m-minY-p11.32/
1-1 |
0
46,XY[73] |
min(Y)(:p11.32→q11.1:) |
n.a. |
n.a. |
n.a. |
prenatal |
{0} provided from Essen,
Germany |
m-minY-
pter/
1-1 |
2 |
45,X[3]/
46,X,der(Y)(pter→q11.1:
:?p11.32→p11.32)[6]/
r(Y)(::p11.32→q11.1: :?p11.32→p11.32::)[4] |
n.a. |
n.a. |
n.a. |
prenatal |
{0}
provided from Leipzig, Germany |
m-minY-p11.2/
1-1 |
27
karyotype:
45,X[3]/
46,X,mar[4]/46,Xr(Y)(::q12→q11.1:
:p11.2→p11.3::)[2]/
47,X,r(Y)(::q12→q11.1:
:p11.2→p11.3::),
+mar(Y)[2]
|
r(Y)
= min(Y)(:p11.2→q11.1:)
PBL
(EKF-
cellbank)
|
n.a. |
- |
+ |
+ |
{0}
provided from Tübingen, Germany |
m-minY-p11.2/
2-1 |
see +21--Y-1 |
m-minY-p11.2-q11.2/
1-1 |
6 |
min(Y)(pter→q11.21:
:p11.2→pter) |
n.a. |
n.a. |
n.a. |
prenatal |
{0}
provided from Erfurt, Germany |
m-minY-p11.1/
1-1 |
- |
min(Y)(:p11.1~11.2→q11.22:) |
- |
- |
- |
inf |
{145} |
m-minY-p11.1/
1-2 |
- |
min(Y)(:p11.1~11.2→q11.22:) |
n.a. |
- |
+ |
- |
{145} |
m-minY-p11.1/
2-1 |
-
(46,XY in 81) |
min(Y)(:p11.1→q11.1:) |
- |
- |
- |
transexual
diagnostics |
{0} |
m-minY-q11.1/
1-1 |
43
(amnio) |
der(Y)(pter→q11.21:)[6]/
inv dup(Y)(q11.1)[1] |
n.a. |
n.a. |
n.a. |
prenatal |
{0}
provided from Dresden, Germany |
m-minY-q11.1/
2-1 |
11 |
der(Y)(pter→q11.21:) |
n.a. |
n.a. |
n.a. |
infertile |
{0} provided from Munich,
Germany |
m-minY-q11.221/
1-1 |
18 |
del(Y)(pter→q11.221:) |
n.a. |
n.a. |
n.a. |
prenatal,
TOP
|
{332}
case 48 |
m-minY-q11.22?2/
1-1 |
18 |
46,X,del(Y)(q11.22?2)[70]/
46,X,inv dup(Y)(q11.22?2)[2]/
45,X[12] |
+ |
n.a. |
n.a. |
infertile |
{0}
provided from New Belgrade, Serbia |
m-minY-q11.2?3-
q12/
1-1 |
- |
mos
47,X,min(Y)(pter→q12::q12→q11.2?3:),
+min(Y)(:p11.1→q11.21:)/
46,X,min(Y)(pter→q12::q12→q11.2?3:) |
n.a. |
n.a. |
n.a. |
prenatal |
{0}
provided from Hannover, Germany |
m-minY-q12.1/
1-1 |
58
(amnio) |
del(Y)(q11.21:)
|
n.a. |
n.a. |
n.a. |
prenatal |
{0}
provided from Essen, Germany |
m-minY-q11.1-p11.31/
1-1 |
42 |
der(Y)(pter→q11.1::p11.31→pter)
|
n.a. |
n.a. |
n.a. |
infertile |
{0} provided from Spain |
|
sSMC(Y)
with minute shape (not well characterized) –
male |
|
sSMC(Y) with unclear shape -
male (mar) |
case no.
|
cells with
45,X (%)
|
sSMC
karyotype
|
lack of puberty
|
(develop-)
mental
retardation
|
short
stature
|
others
|
References
|
m-marY-1
|
35 |
mar(Y) |
- |
-
|
-
|
-
|
{11}
case 4 |
m-marY-2
|
30 |
mar(Y)
|
-
|
(+)
|
+
|
-
|
{41}
|
m-marY-3
|
-
|
mar(Y)
|
n.a.
|
-
|
-
|
-
|
{54} case
13 |
m-marY-4
|
-
|
mar(Y)
|
n.a.
|
-
|
-
|
-
|
{54} case
15 |
m-marY-5
|
86
|
mar(Y)(pter→q11.1:)
|
n.a.
|
n.a.
|
n.a.
|
prenatal,
TOP |
{332}
case 52 |
|
|
|