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sSMC Y - in 46 CHROMOSOMES - FEMALE

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References

 

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 reference  
  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- female (not clearly characterized)

 
  case no. cells with 45,X (%) sSMC karyotype lack of puberty/ amenorrhea (develop)mental retardation short stature others reference  
  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}  
                 

 


References

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 reference  
  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
7 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. 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
+ - + + {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-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/
3-1
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) + - + + {223} case 7  
  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/
1-16
88 inv dup(Y)(q11) + - + + {131}  
  f-iY-q11/
1-18
- inv dup(Y)(q11) + - - + {159; 160, case 15}  
  f-iY-q11/
1-19
+ (% n.a.) inv dup(Y)(q11) n.a. n.a. n.a. n.a. {173}  
  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) - n.a. (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
 
  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-q11.23/
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  
                 

 

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

 

 
  case no. cells with 45,X (%) sSMC karyotype lack of puberty/ amenorrhea (develop)mental retardation short stature others reference  
  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-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-26 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  
                 

 


References

 

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 reference  
  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 - female (not clearly characterized)

 
  case no. cells with 45,X (%) sSMC karyotype lack of puberty/ amenorrhea (develop)mental retardation short stature others reference  
  m-uminY-1 11 min(Y)x4[72%]/
min(Y)x3[14%]/
min(Y)x2[2%]/
min(Y)[1%]/
+ - - + {162}  
  m.uminY-2 to 3 + (% n.a.) min(Y) n.a. - + - {309} cases 10, 14  
                 


 


References


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 reference  
  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)[48%]/
XY[20%]
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