ChromosOmics - Database

Icon by Leon Liehr                   

              -  sSMC derived from Y in a 46 karyotype -           
FEMALE

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)
ring centric minue shape sSMC(Y) undefined  shape sSMC(Y)
phenotype female (fY)
ring shape sSMC(Y)
 inv dup shape sSMC(Y)
centric minute 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 - female

case no.
 cells with
45,X (%)
sSMC
karyotype
 lack of puberty/
amenorrhea
 (develop-)
mental
retardation
 short
stature
 others
 References
f-rY-p11.3/
1-1		 51
46,XY in 21		 r(Y)(p11.3?1q11.2?1) - - n.a. + {0} provided by Dr. Ehlert, Hannover, Germany
f-rY-p11.2/
1-1		 42 r(Y)(p11.2q11.2) + - + + {167} {252} case 2
f-rY-p11.2/
1-2		 40 r(Y)(p11.2q11.23) + - + + {57}
f-rY-p11.2/
1-3		 33 r(Y)(p11.2q11.23)[57%]/
inv dup(Y)(p11.2)x2[10%]		 n.a. n.a. - - {200; 201}

sSMC(Y) with ring shape (not well characterized) - female

case no.
 cells with
45,X (%)
sSMC
karyotype
 lack of puberty/
amenorrhea
 (develop-)
mental
retardation
 short
stature
 others
 References
f-urY-1 25 r(Y) + - + - {1} case 7
f-urY-2 + (% n.a.) r(Y) - (ab) - (ab) - (ab) - (ab) {1} case 14
f-urY-3 70 r(Y) n.a. - + + {40; 54 case 9}
f-urY-4 94 r(Y) n.a. + + + {62} case 6
f-urY-5 + (% n.a.) r(Y) + n.a. + + {101}
f-urY-6 + (% n.a.) r(Y) n.a. - - inf {149}
f-urY-7 + (% n.a.) r(Y) n.a. n.a. n.a. + {152}
f-urY-8 ~1 r(Y) + n.a. + + {154} case SA-83
f-urY-9 - r(Y) + - + + {155}
f-urY-10 49 r(Y) n.a. n.a. - + {156}
f-urY-11 98 r(Y) + n.a. + + {185}
f-urY-12 + (% n.a.) r(Y) n.a. n.a. + + {202}
f-urY-13 + (% n.a.) r(Y) n.a. n.a. + + {220} case Y40
f-urY-14 n.a. r(Y),r(Y;Y) n.a. n.a. + n.a. {311} 1 case
f-urYmos-1 81 dic r(Y)/mos tetra and octacentric rings - - - + {192}
f-urYmos-2 - r(Y)[8%]/ r(Y),r(Y)[92] - + +
{1} case 18
f-urYmos-3 9 r(Y)[20]/
idic(Y)[16]/
mar(Y)[13]/
r(Y),mar(Y)[42]		 n.a. n.a. + n.a. {59}

sSMC(Y) with defined idic/ inv dup shape – female

case no.
 cells with
45,X (%)
sSMC
karyotype
 lack of puberty/
amenorrhea
 (develop-)
mental
retardation
 short
stature
 others
 References
f-iY-p1/
1-1		 - inv dup(Y)(p1) + - + - {120}
f-iY-p1/
1-2		 - inv dup(Y)(p1) + - + - {121}
f-iY-p1/
1-3		 85 inv dup(Y)(p1) + - + - {122}
f-iY-p1/
1-4		 - inv dup(Y)(p1) + - + - {123}
f-iY-p1/
1-5		 - inv dup(Y)(p1) + - + - {124}
f-iY-p1/
1-6		 38 inv dup(Y)(p1) + - + - {128}
f-iY-p1/
1-7		 61 inv dup(Y)(p1) + - + - {128}
f-iY-p1/
1-8		 - inv dup(Y)(p1) + - + - {129}
f-iY-p1/
1-9		 48 inv dup(Y)(p1) n.a. - n.a. - {130}
f-iY-p1/
1-10		 73 inv dup(Y)(p1) - - + - {82}
f-iY-p1/
1-11		 + (% n.a.) inv dup(Y)(p1) + n.a. + + {87}
f-iY-p1/
1-12		 25 inv dup(Y)(p1) + - + - {106} case 2
f-iY-p1/
1-13		 - inv dup(Y)(p1) + - + - {116}
f-iY-p1/
1-14		 {116} inv dup(Y)(p1) + n.a. + + {168}
f-iY-p1/
1-15		 46 inv dup(Y)(p1) + n.a. + + {168}
f-iY-p1/
1-16		 + (% n.a.) inv dup(Y)(p1) n.a. n.a. n.a. n.a. {169}
f-iY-p1/
1-17		 - inv dup(Y)(p1) n.a. n.a. n.a. n.a. {170}
f-iY-p1/
1-18		 - inv dup(Y)(p1) n.a. n.a. n.a. n.a. {170}
f-iY-p1/
1-19		 + (% n.a.) inv dup(Y)(p1) n.a. n.a. n.a. n.a. {171}
f-iY-p1/
1-20		 + (% n.a.) inv dup(Y)(p1) n.a. n.a. + + {220} case Y7
f-iY-p1/
1-21		 - inv dup(Y)(p1) - n.a. + + {220} case 79
f-iY-p1/
1-22		 59 inv dup(Y)(p1) n.a. - + + {235}
f-iY-p1/
1-23		 - inv dup(Y)(p1) n.a. n.a. + n.a. {261}
f-iY-p1/
1-24		 70 inv dup(Y)(p1) + n.a. + + {262}
f-iY-p1/
2-1		 + (% n.a.) inv dup(Y)(p1)/
mos complex		 + n.a. + n.a. {228}
f-iY-p1/
2-2		 + (% n.a.) mos inv dup(Y)(p1)/
inv dup(Y)(p1)x2/
47,XYY		 + n.a. + + {86}
f-iY-p1/
2-3		 30 inv dup(Y)(p1)[60%]/
tan inv dup(Y)(p1)[10%]		 + - + - {89}
f-iY-p11/
1-1		 - inv dup(Y)(p11) + n.a. + n.a. {92}
f-iY-p11/
1-2		 + (% n.a.) inv dup(Y)(p11) + n.a. n.a. + {93} case 4
f-iY-p11/
1-3		 + (% n.a.) inv dup(Y)(p11) + n.a. + + {94}
f-iY-p11/
1-4		 76 inv dup(Y)(p11) n.a. n.a. + n.a. {59}
f-iY-p11/
1-5		 30 inv dup(Y)(p11) + n.a. + n.a. {79}
f-iY-p11/
1-6		 43 inv dup(Y)(p11) n.a. - + + {133}
f-iY-p11/
1-7		 + (% n.a.) inv dup(Y)(p11) + n.a. n.a. n.a. {138}
f-iY-p11/
1-8		 17 inv dup(Y)(p11) + - - + {141}
f-iY-p11/
1-9		 - inv dup(Y)(p11) + n.a. + + {142 case 2; 143}
f-iY-p11/
1-10		 - inv dup(Y)(p11) + - + + {142, case 1}
f-iY-p11/
1-11		 + (% n.a.) inv dup(Y)(p11) + n.a. + + {144}
f-iY-p11/
1-12		 + (% n.a.) inv dup(Y)(p11) + n.a. + + {144}
f-iY-p11/
1-13		 n.a. inv dup(Y)(p11) n.a. n.a. n.a. n.a. {65}
f-iY-p11/
1-14		 65 inv dup(Y)(p11) n.a. - + - {263} case 2
f-iY-p11/
2-1		 60 inv dup(Y)(p11)[30%]/
XX[8%]/
XX,inv dup(Y)(p11)[2%]		 n.a. - + - {115}
f-iY-p11/
2-2		 + (% n.a.) inv dup(Y)(p11)/
mos 46,XY/ 47,XY,inv dup(Y)(p11)		 + - + - {91}
f-iY-p11/
2-3		 3 inv dup(Y)(p11)[67%]/
inv dup(Y)(p11)x2[30%]		 n.a. + + + {137}
f-iY-p11/
2-4		 60 inv dup(Y)(p11)[36%] mos 47,XXY/47,XXY/
47,XY,inv dup(Y)/
48,XYY,inv dup(Y)/
47,X,inv dup(Y)x2		 + + + + {84} case 2
f-iY-p11/
2-5		 37 inv dup(Y)(p11)[63%] mos 47,XYY/47,XY,inv dup(Y)/
47,X,inv dup(Y)x2/46,XY		 + - + + {84} case 1
f-iY-p11.32/
1-1		 65 inv dup(Y)(p11.32) n.a. n.a. n.a. + {254} case 1
f-iY-p11.32/
1-2		 73 inv dup(Y)(p11.32) + - + + {75}
f-iY-p11.32/
1-3		 85 inv dup(Y)(q11.23) n.a. n.a. n.a. n.a. {265} case F2
f-iY-p11.32/
2-1		 + (% n.a.) inv dup(Y)(p11.32)/
mos complex		 - - - - {203}
f-iY-p11.32/
2-2		 - inv dup(Y)(p11.32) /
mos complex		 n.a. - - inf {206}
f-iY-p11.32/
2-3		 50 inv dup(Y)(p11.32)[40%]/
inv dup(Y)x2[4%]/ XYY[6%]		 n.a. n.a. - + {211}
f-iY-q11.31/
1-1		 4 inv dup(Y)(q11.31),
del(Y)(q11.31)[2]/
del(Y)(q11.31)[94]
 n.a. n.a. n.a. penatal {319} case 171276
f-iY-p11.3/
1-1		 27 inv dup(Y)(p11.3) n.a. - + +
 {205} case 1
f-iY-p11.3/
1-2		 70 inv dup(Y)(p11.3) n.a. n.a. + + {222} case LB
f-iY-p11.3/
1-3		 90 inv dup(Y)(p11.3) n.a. n.a. + n.a. {59}
f-iY-p11.3/
1-4		 43 inv dup(Y)(p11.3) n.a. n.a. + n.a. {59}
f-iY-p11.3/
1-5		 50-89 acc. to tissue inv dup(Y)(p11.3) n.a. n.a. n.a. different mosaics in different tissues {260}
f-iY-p11.3/
2-1		 30 amnion inv dup(Y)(p11.3?) n.a. n.a. n.a. n.a. {242} case 3
f-iY-p11.3/
3-1		 94 inv dup(Y)(p11.3)[25%]/
inv dup(Y)(p11.3)x2[1%]		 n.a. n.a. + + {221, 222} case CS
f-iY-p11.3~11.2/
1-1		 23 inv dup(Y)(p11.3~11.2) + - + - {68}
f-iY-p11.2/
1-1		 30 inv dup(Y)(p11.2)/
mos complex		 n.a. n.a. n.a. + {243}
f-iY-p11.2/
2-1		 88 inv dup(Y)(p11.2)[10%]/
inv dup(Y)(p11.2)x2[1%]/
XY[1%]		 + - + - {237} case 2
f-iY-p11.2/
3-1		 0 inv dup(Y)(p11.2) n.a. n.a. n.a. prenatal {0} provided by genetikaimd, Belgrad, Serbia
f-iY-p11.2/
3-2		 92 inv dup(Y)
(qter→p11:
:p11.2→qter)		 n.a. n.a. + n.a. {59}
f-iY-q1/
1-1		 73 inv dup(Y)(q1) - (ab) - (ab) - (ab) - (ab) {1} case 11
f-iY-q1/
1-2		 6 inv dup(Y)(q1) - (ab) - (ab) - (ab) - (ab) {1} case 12
f-iY-q1/
1-3		 3 inv dup(Y)(q1) n.a - + - {198}
f-iY-q1/
1-4		 + (% n.a.) inv dup(Y)(q1) + n.a n.a n.a {172}
f-iY-q1/
1-5		 + (% n.a.) inv dup(Y)(q1) n.a. n.a. n.a. + {213} case 7
f-iY-q1/
1-6		 77 inv dup(Y)(q1) + - + + {213} case 8
f-iY-q1/
1-7		 + (% n.a.) inv dup(Y)(q1) n.a. n.a. n.a. + {213} case 13
f-iY-q1/
1-8		 - inv dup(Y)(q1) + - + + {215}
f-iY-q1/
1-9		 + (% n.a.) inv dup(Y)(q1) n.a. n.a. + + {232}
f-iY-q1/
1-10		 59 inv dup(Y)(q1) n.a. n.a. + + {250} case 14
f-iY-q1/
1-11		 10 inv dup(Y)(q1) n.a. n.a. n.a. + {253}
f-iY-q1/
1-12		 + (% n.a.) inv dup(Y)(q1) + n.a. n.a. n.a. {172}
f-iY-q1/
1-13		 + (% n.a.) inv dup(Y)(q1)* + n.a. + n.a. {283} case 3
f-iY-q1/
1-14		 + (% n.a.) inv dup(Y)(q1) + n.a. n.a. n.a. {301} 1 case
f-iY-q11/
1-1		 9 inv dup(Y)(q11) n.a. n.a. + n.a. {59}
f-iY-q11/
1-2		 21 inv dup(Y)(q11) n.a. n.a. + n.a. {59}
f-iY-q11/
1-3		 75 inv dup(Y)(q11) + - + + {1} case 6
f-iY-q11/
1-4		 82 inv dup(Y)(q11) n.a. n.a. + n.a. {59}
f-iY-q11/
1-5		 73 inv dup(Y)(q11) n.a. n.a. + n.a. {59}
f-iY-q11/
1-6		 63 inv dup(Y)(q11) n.a. n.a. + n.a. {59}
f-iY-q11/
1-7		 27 inv dup(Y)(q11) n.a. n.a. + n.a. {59}
f-iY-q11/
1-8		 + (% n.a.) inv dup(Y)(q11) n.a. n.a. + - {107}
f-iY-q11/
1-9		 24 inv dup(Y)(q11) + - + + {110}
f-iY-q11/
1-10		 36 inv dup(Y)(q11) + - + n.a. {117}
f-iY-q11/
1-11		 70 inv dup(Y)(q11) + - - n.a. {117}
f-iY-q11/
1-12		 37 inv dup(Y)(q11) + - + n.a. {118}
f-iY-q11/
1-13		 81 inv dup(Y)(q11) - - + inf {119}
f-iY-q11/
1-14		 26 inv dup(Y)(q11) - - + inf {119}
f-iY-q11/
1-15		 86 inv dup(Y)(q11) n.a. - + + {119}
f-iY-q11/
1-16		 + (% n.a.) inv dup(Y)(q11) n.a. n.a. n.a. n.a. {128}
f-iY-q11/
1-17		 + (% n.a.) inv dup(Y)(q11) n.a. n.a. n.a. n.a. {173}
f-iY-q11/
1-18		 88 inv dup(Y)(q11) + - + + {131}
f-iY-q11/
1-19		 - inv dup(Y)(q11) + - - + {159; 160, case 15}
f-iY-q11/
1-20		 30 inv dup(Y)(q11) + - + + {190}
f-iY-q11/
1-21 		73 (amnio) inv dup(Y)(q11) n.a. - - - {191} case 3
f-iY-q11/
1-22 		30 inv dup(Y)(q11) n.a. - + + {195}
f-iY-q11/
1-23 		63 inv dup(Y)(q11) + - + + {223} case 8
f-iY-q11/
1-24 		92 inv dup(Y)(q11) + - + + {223} case 11
f-iY-q11/
1-25 		88 inv dup(Y)(q11) n.a. - + + {234} case 2
f-iY-q11/
1-26 		13 inv dup(Y)(q11) n.a. n.a. n.a. + {234} case 3
f-iY-q11/
1-27 		+ (% n.a.) inv dup(Y)(q11) n.a. n.a. + + {236}
f-iY-q11/
1-28		 + (% n.a.) inv dup(Y)(q11) n.a. n.a. + + {236}
f-iY-q11/
2-1		 + (% n.a.) inv dup(Y)(q11)/
del(Y)(q11)		 n.a. n.a. n.a. top {248}
f-iY-q11/
2-2 		46 inv dup(Y)(q11)[53%]/
inv dup(Y)(q11)x2[1%] 		n.a. - n.a. n.a. {233}
f-iY-q11/
2-3 		52 inv dup(Y)(q11)/
mos inv dup(Y)x2/min(Y) 		+ - + - {139}
f-iY-q11/
2-4 		47 inv dup(Y)(q11)[47]/
inv dup(Y)(q11)x2[6%] 		n.a. n.a. + n.a. {59}
f-iY-q11/
2-5 		51 inv dup(Y)(q11)[34%]/
mar(Y)[15] 		n.a. + n.a. n.a. {23; 24}
f-iY-q11/
2-6		 64 inv dup(Y)(q11)x2 n.a. - n.a. n.a. {278}
f-iY-q11.1/
1-1		 82 inv dup(Y)(q11.1) + - + + {74}
f-iY-q11.1/
1-2 		23 inv dup(Y)(q11.1) + - + + {74}
f-iY-q11.1/
1-3 		50 inv dup(Y)(q11.1)* n.a. n.a. + n.a. {267} case 1
f-iY-q11.1/
1-4		 53 inv dup(Y)(q11.1) n.a. n.a. + n.a. {0} provided by Dr. Belitz, Berlin, Germany
f-iY-q11.1/
2-1		 97 inv dup(Y)(q11.1)[1.3]/
min(Y)(p11.2q11.1)[1.7]		 n.a. - - + {259}
f-iY-q11.2/
1-1		 86 inv dup(Y)(q11.2) + - - - {1} case 9 f-iY-q11.1/2-1
f-iY-q11.2/
1-2		 59 inv dup(Y)(q11.2) - (ab) - (ab) - (ab) - (ab) {1} case 13
f-iY-q11.2/
1-3		 19 inv dup(Y)(q11.2) - - (ab) - (ab) + {1} case 23
f-iY-q11.2/
1-4		 77 inv dup(Y)(q11.2) n.a. n.a. + n.a. {59}
f-iY-q11.2/
1-5		 - inv dup(Y)(q11.2) n.a. n.a. + n.a. {59}
f-iY-q11.2/
1-6		 60 inv dup(Y)(q11.2) + - + - {68}
f-iY-q11.2/
1-7		 66 inv dup(Y)(q11.2) + - + + {68}
f-iY-q11.2/
1-8		 58 inv dup(Y)(q11.2) n.a. + + + {68}
f-iY-q11.2/
1-9		 61 inv dup(Y)(q11.2) + - - + {68}
f-iY-q11.2/
1-10		 ~5% inv dup(Y)(q11.2) + - + + {73}
f-iY-q11.2/
1-11		 10 inv dup(Y)(q11.2) + n.a. + + {185}
f-iY-q11.2/
1-12		 63 inv dup(Y)(q11.2) + n.a. + + {185}
f-iY-q11.2/
1-13		 - inv dup(Y)(q11.2) + - + + {193}
f-iY-q11.2/
1-14		 + (% n.a.) inv dup(Y)(q11.2) n.a. n.a. + + {197} case 12
f-iY-q11.2/
1-15		 92 inv dup(Y)(q11.2) n.a. n.a. n.a. + {212}
f-iY-q11.2/
1-16		 97 inv dup(Y)(q11.2) n.a. n.a. + + {221, 222} case NT
f-iY-q11.2/
1-17		 70 inv dup(Y)(q11.2) n.a. - + + {249}
f-iY-q11.2/
1-18		 + (% n.a.) inv dup(Y)(q11.2) n.a. n.a. n.a. (prenatal) {259} case f-iY-q11.2/1-18
f-iY-q11.2/
1-19		 77 inv dup(Y)(q11.2) + - + + {230}
f-iY-q11.2/
1-20		 14 amnion inv dup(Y)(q11.2) n.a. n.a. n.a. n.a. {242} case 2
f-iY-q11.2/
1-21		 10 inv dup(Y)(q11.2) + n.a. n.a. n.a. {0} provided by Dr. Vukan Cupic - Serbia
f-iY-q11.2/
1-22		 7 (43% 46,XY) inv dup(Y)(q11.2) n.a. n.a. n.a. n.a. {275} case 12
f-iY-q11.2/
1-23		 n.a. inv dup(Y)(q11.2) n.a. n.a. n.a. n.a. {277} case P-10
f-iY-q11.2/
1-24		 64 inv dup(Y)(q11.2) - + + + {294} case 2
f-iY-q11.2/
2-1		 68 (amnio) inv dup(Y)(q11.2)[28%]/
del(Y)(q12)[2%]/
del(Y)(q12)x2[2%]		 n.a. n.a. n.a. top {39}
f-iY-q11.21/
1-1		 70, PBL
(EKF-cellbank)		 idic(Y)(q11.221)[103]/
del(Y)(q11.21~q11.221)[3]/
der(Y)(pter→q11.21~q11.221:
:q11.221→q11.221:)		 n.a. n.a. +
-		 {312} case 13; {315}
f-iY-q11.21/
1-2		 92
(amnio)		 inv dup(Y)(q11.21)x2[8%]/
inv dup(Y)(q11.21)[1%]		 n.a. n.a. n.a. n.a. {0} provided by Dr. Hickmann, Düsseldorf, Germany
f-iY-q11.22/
1-1		 + (% n.a.) inv dup(Y)(q11.22) n.a. n.a. + - {99} case 4
f-iY-q11.22/
1-2		 97 inv dup(Y)(q11.22) n.a. - - - {189} case 4
f-iY-q11.22/
1-3		 30 inv dup(Y)(q11.22) - - - inf {297} case 14
f-iY-q11.221-11.223/
1-1		 75
 der(Y)(pter→q11.223:
:q11.221→pter)		 - - - inf {0} provided from Essen, Germany
f-iY-q11.23/
1-1		 82 inv dup(Y)(q11.23) n.a. - + - {71}
f-iY-q11.23/
1-2		 20 inv dup(Y)(q11.23) n.a. - + - {71}
f-iY-q11.23/
1-3		 80 inv dup(Y)(q11.23) + - + + {226}
f-iY-q11.23/
1-4		 24 inv dup(Y)(q11.23) + - + + {239} case 2
f-iY-q11.23/
1-5		 + (% n.a.) inv dup(Y)(q11.23) n.a. n.a. + + {99} case 3
f-iY-q11.23/
1-6		 25 inv dup(Y)(q11.23) n.a. n.a. n.a. n.a. {265} case F1
f-iY-q11.23/
2-1		 12 inv dup(Y)(q11.23)[52%]/
del(Y)(q11.23)[36%]		 n.a. - + + {239} case 7
f-iY-q11.23/
2-2		 37 inv dup(Y)(q11.23)[57]/
inv dup(Y)(q11.23)x2[6%]		 n.a. - + - {229}
f-iY-q11.23/
2-3		 23 inv dup(Y)(q11.23)[46%]/
del(Y)(q11.23)[31%]		 + - + + {239} case 1
f-iY-q11.23/
2-4		 34 inv dup(Y)(q11.23)[32%]/
del(Y)(q11.23)[34%]		 + + + + {1} case 8
f-iY-q11.23/
2-5		 86 inv dup(Y)(q11.23)[2%]/
del(Y)(q11.23)[12%]		 + + + + {287} case 2
f-iY-q11.23/
3-1		 45 inv dup(Y)(q11.23)[10%]/
inv dup(Y)(q11.23),r(Y)(p11.11q11.11)[45%]		 - + + + {294} case 1
f-iY-q12/
1-1		 + (% n.a.) inv dup(Y)(q12) n.a. n.a. n.a. n.a. {100}
f-iY-q12/
1-2		 52 inv dup(Y)(q12) +
-		 + + {84} case 4
f-iY-q12/
1-3		 + (% n.a.) inv dup(Y)(q12) n.a. n.a. n.a. + {175}
f-iY-q12/
1-4		 9 inv dup(Y)(q12) + - + n.a. {176} case 21
f-iY-q12/
1-5		 75 inv dup(Y)(q12) n.a. - + + {223} case 3
f-iY-q12/
1-6		 16 inv dup(Y)(q12) + - + + {227}
f-iY-q12/
1-7		 95 inv dup(Y)(q12) + - + + {281}
f-iY-q12/
1-8		 + (% n.a.) inv dup(Y)(q12) + - + + {282} case 3
f-iY-q12/
2-1		 29 inv dup(Y)(q12)[90%]/
inv dup(Y)(q12)x2[1%]		 n.a. + - + {68}
f-iY-q12/
2-2		 70 inv dup(Y)(q12)[29%]/
inv dup(Y)(q12)x2[1%]		 n.a. n.a. n.a. genital abnormalities {0} provided by Polityko, Minsk, Belarus
f-iY-qt11.223/
1-1		 48 inv dup(Y)(qter→q11.223::
q11.223→qter)*		 n.a. n.a. n.a. prenatal {318} case 15



sSMC(Y) with idic/ inv dup (not well characterized) - female

case no.
 cells with
45,X (%)
sSMC
karyotype
 lack of puberty/
amenorrhea
 (develop-)
mental
retardation
 short
stature
 others
 References
f-uiY-1 25 inv dup(Y) + - + - {6} case 2
f-uiY-2 60 inv dup(Y) + n.a. + n.a. {19} case 32
f-uiY-3 80 inv dup(Y) + n.a. + n.a. {19} case 45
f-uiY-4 - inv dup(Y) + n.a. + n.a. {19} case 46
f-uiY-5 40 inv dup(Y) + n.a. + n.a. {19} case 47
f-uiY-6 - inv dup(Y) + n.a. + n.a. {19} case 48
f-uiY-7 90 inv dup(Y) + n.a. + n.a. {19} case 49
f-uiY-8 80 inv dup(Y) + n.a. + n.a. {19} case 50
f-uiY-9 40 inv dup(Y) + - + + {41}
f-uiY-10 10 inv dup(Y) + - + - {76; 78}
f-uiY-11 - inv dup(Y) + + + + {77}
f-uiY-12 -
 - -
 -
 -
 -
 -
f-uiY-13 + (% n.a.) inv dup(Y) + + + + {90}
f-uiY-14 + (% n.a.) inv dup(Y) + - - - {90}
f-uiY-15 + (% n.a.) inv dup(Y) + n.a. n.a. + {93} case 2
f-uiY-16 + (% n.a.) inv dup(Y) n.a. n.a. + + {96}
f-uiY-17 + (% n.a.) inv dup(Y) n.a. - - + {101}
f-uiY-18 70 inv dup(Y) + n.a. n.a. n.a. {114}
f-uiY-19 20 inv dup(Y) + - + - {116}
f-uiY-20 67 inv dup(Y) + - + + {148} case 1
f-uiY-21 53 inv dup(Y) + - + + {148} case 2
f-uiY-22 15 inv dup(Y) + - + + {148} case 4
f-uiY-23 63 inv dup(Y) + - + + {163}
f-uiY-24 67 inv dup(Y) n.a. - n.a. + {163}
f-uiY-25 10 inv dup(Y) - - + + {251}
f-uiY-26 + (% n.a.) inv dup(Y) n.a. n.a. n.a. + {213} case 10
f-uiY-27 n.a. inv dup(Y) n.a. n.a. + n.a. {311} 1 case
f-uiYmos-1 38 inv dup(Y)/ XY + - - + {98}
f-uiYmos-2 30 inv dup(Y)[11%]/
inv dup(Y),min(Y)[21%]/
min(Y)[20%]		 - - + +
{25} case 2
f-uiYmos-3 60 inv dup(Y)[20%]/
inv dup(Y)x2[20%]		 n.a. - + + {48}
f-uiYmos-4 + (% n.a.) mos inv dup(Y)/inv dup(Y)x2/
Y,inv dup(Y)		 n.a. n.a. - n.a. {81}
f-uiYmos-5 + (% n.a.) inv dup(Y)
mos XY/XYY,inv dup(Y)		 n.a. - + + {97} case 3

sSMC(Y) with defined centric minute shape - female

case no.
 cells with
45,X (%)
sSMC
karyotype
 lack of puberty/
amenorrhea
 (develop-)
mental
retardation
 short
stature
 others
 References
f-minY-p11.1/
1-1		 0 min(Y)(:p11.1-q11.1:) n.a. n.a. + + {0} provided by Dr. Sandig, Leipzig, Germany
f-minY-p11.2/
1-1		 35 min(Y)(:p11.2-q11.1:) n.a. n.a. + n.a. {0} provided by Dr. Sheth, Ahmedabad, India

sSMC(Y) with minute shape (not well characterized) – female

case no.
 cells with
45,X (%)
sSMC
karyotype
 lack of puberty/
amenorrhea
 (develop-)
mental
retardation
 short
stature
 others
 References
f-uminY-
1		 11 min(Y)x4[72%]/
min(Y)x3[14%]/
min(Y)x2[2%]/
min(Y)[1%]		 + - - + {162}
f-uminY-
2 to 3		 + (% n.a.) min(Y) n.a. - + - {309} cases 10, 14
f-uminY-
4
 62 min(Y) n.a. - +
 + {319} case 69433
f-uminY-
5
 61 min(Y) n.a. - - +; surgically made to male
 {319} case W01824
f-uminY-
6
 5 min(Y) n.a. - - prenatal {319} case 150677

sSMC(Y) with unclear shape - female (mar)

case no.
 cells with
45,X (%)
sSMC
karyotype
 lack of puberty/
amenorrhea
 (develop-)
mental
retardation
 short
stature
 others
 References
f-marY-1 87 mar(Y) + n.a. + + {11} case 3
f-marY-2 80 mar(Y) + - + + {17} case SM
f-marY-3 0.5 mar(Y) + n.a. + + {18} case 1
f-marY-4 40 mar(Y) + n.a. - - {18} case 2
f-marY-5 0.5 mar(Y) + n.a. + - {18} case 3
f-marY-6 15 mar(Y) + n.a. + + {18} case 4
f-marY-7 93 mar(Y) + n.a. + + {18} case 5
f-marY-8 70 mar(Y)[20]/
+mar(Y)x2[10]		 + n.a. - + {18} case 6
f-marY-9 - mar(Y) + n.a. + - {18} case 7
f-marY-10 50 mar(Y) + n.a. + + {18} case 8
f-marY-11 70 mar(Y) + n.a. + + {18} case 9
f-marY-12 40 mar(Y) + n.a. - + {18} case 10
f-marY-13 45 mar(Y) + n.a. + - {18} case 12
f-marY-14 89 mar(Y) n.a. - + + {52}
f-marY-15 68 mar(Y) - - + - {54} case 8
f-marY-16 60 mar(Y) + - - - {54} case 10
f-marY-17 - mar(Y) n.a. - - - {54} case 14
f-marY-18 32 mar(Y) n.a. n.a. n.a. + {61} case B
f-marY-19 62 mar(Y) + n.a. + + {168}
f-marY-20 93 mar(Y) + n.a. + + {168}
f-marY-21 34 mar(Y) + n.a. + + {168}
f-marY-22 75 mar(Y) + n.a. + + {168}
f-marY-23 ~1 mar(Y) + n.a. + + {168}
f-marY-24 ~1 mar(Y) + n.a. + + {168}
f-marY-25 80 mar(Y) - n.a. n.a. + {194} case 1
f-marY-26 41 mar(Y) + n.a. n.a. + {194} case 3
f-marY-27 75 mar(Y) n.a. n.a. n.a. + {194} case 4
f-marY-28 47 mar(Y) + n.a. n.a. + {194} case 5
f-marY-29 84 mar(Y) n.a. n.a. n.a. + {194} case 6
f-marY-30 - mar(Y) n.a. n.a. n.a. + {194} case 7
f-marY-31 10 mar(Y) n.a. n.a. n.a. + {194} case 8
f-marY-32 ~99 mar(Y) n.a. n.a. n.a. + {194} case 9
f-marY-33 - mar(Y) n.a. n.a. n.a. + {194} case 10
f-marY-34 50 mar(Y) + n.a. n.a. + {194} case 11
f-marY-35 + (% n.a.) mar(Y)/
mar(Y),idic(Y)		 n.a. n.a. + + {202}
f-marY-36 + (% n.a.) mar(Y) n.a. n.a. + + {220} case Y33
f-marY-37 55 mar(Y) n.a. - + + {252} case 1
f-marY-38 81 mar(Y) + - - + {223} case 12
f-marY-39 to f-marY-40 mosaic mar(Y) n.a. n.a. (+) - {269} 2 cases
f-marY-41 22 mar(Y) n.a. - + - {284} case 7
f-marY-42 to f-marY-51
 n.a. mar(Y) n.a. - + - {324} 10 cases
f-marY-52 n.a. mar(Y) (idic - not known of p or q)
 n.a. - + - {329} 1 case