ChromosOmics - Database

Icon by Leon Liehr                   

              -  sSMC derived from Y in a 46 karyotype -           
MALE

Among Turnersyndrome cases 6.6% carry an sSMC {308}

sSMC derived from X-chromosome
 sSMC derived from Y-chromosome
phenotype male (mY)
ring shape sSMC(Y) inv dup shape sSMC(Y)
centric minute shape sSMC(Y) undefined shape sSMC(Y)
  phenotype fe male (fY)
ring shape sSMC(Y) inv dup shape sSMC(Y)
ring centric minue shape sSMC(Y) undefined  shape sSMC(Y)
sSMC derived from chromosome ?
 DISCLAIMER



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 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 from 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 from 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 from 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 from  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 from 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 from 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 from 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 from 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 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/
1-20 		0
47,XX,+mar [18]/46,XX [3]
 		inv dup(Y)(q11) -
 -
 -
 prenatal
child born and published as Klinefelter syndrome case
 {341}
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/
1-3 		60 inv dup(Y)(q11.1) - - - prenatal {0} provided from Germany
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 from 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 from 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 from 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 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 from  Serbia
m-iY-q11.221/
1-1 		78 inv dup(Y)(q11.221) n.a. - + azoospermia {0} provided from Germany
m-iY-q11.221/
1-2 		40 inv dup(Y)(q11.221) n.a. n.a. n.a. prenatal; child born {0} provided from 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/
1-5 		0
 inv dup(Y)(q11.22?1) n.a. n.a. n.a. inf {0} provided from Greece
m-iY-q11.221/
1-6 		51
 inv dup(Y)(q11.221) n.a. n.a. n.a. prenatal {334} case 2
m-iY-q11.221/
1-7 		21
 inv dup(Y)(q11.221) n.a. n.a. n.a. prenatal {335} case 1
m-iY-q11.221/
1-7 		45
 inv dup(Y)(q11.221) n.a. n.a. n.a. prenatal {340} case 5
m-iY-q11.221
~11.222/
1-1 		30 inv dup(Y)(q11.221~11.222) n.a. n.a. n.a. inf {0} provided from Germany
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 from 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-q11.23/
2-2 		20 inv dup(Y)(q11.23) - - + inf {335} case 12
m-iY-q11.2?3/
1-1 		50 inv dup(Y)(q11.2?3) n.a. n.a. + n.a. {0} provided from  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 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 from 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-
pter/
1-1		 23 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 Germany
m-minY-
pter/
2-1		 20 del(Y)(q11.1) n.a. n.a. n.a. prenatal {0} provided from Germany
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  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 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 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  Germany
m-minY-q11.1/
2-1		 11 der(Y)(pter→q11.21:) n.a. n.a. n.a. infertile {0} provided from  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 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 Germany
m-minY-q12.1/
1-1		 58
(amnio)		 del(Y)(q11.21:) n.a. n.a. n.a. prenatal {0} provided from 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

case no.
 cells with
45,X (%)
sSMC
karyotype
 lack of puberty
 (develop-)
mental
retardation
 short
stature
 others
 References
m-uminY-1 - min(Y) n.a. - + - {218} case 1
m-uminY-2 + (% n.a.) min(Y) n.a. - + - {309} case 14
m-uminY-3 58 min(Y) n.a. - - + {319} case W02938
m-uminY-4 53 min(Y) - - - azoospermia {319} case 62091
m-uminY-5 - min(Y) - - - azoospermia {319} case 77279
m-uminY-6 - min(Y)
1 mar in 17%; 2 mar in 30%; 3 mar in 53% 		- - - azoospermia {319} case 80794
m-uminY-7 - min(Y) - - - azoospermia {319} case 98139
m-uminY-8 5 min(Y) n.a. n.a. n.a.
{319} case 150677

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