FISH

SMALL SUPERNUMERARY MARKER CHROMOSOMES

- sSMC X - 46 chrs. -

        References

       

 

Abbreviations used on this sub-page:
ab = ascertained (long) before puberty
fd = fetal death
inf = infertile
n.a. = not available
top = termination of pregnancy

 


Cases with 45,X and an additional sSMC derived from an autosome (A)

 

                   
  case no. cells with 45,X (%)

sSMC karyotype

lack of puberty/ amenorrhea (develop)mental retardation short stature others

reference

 
  A-n.a./
1-1
+ (% n.a.) mar (?)
X and Y chromosomal origin was excluded
n.a. n.a. + + {185} 1 case  
  A-n.a./
1-2
+ (% n.a.) mar (?)
X and Y chromosomal origin was excluded
n.a. n.a. + n.a. {269} 1 case  
  A-14/
1-1 -
see also 14-U-13
- 46,X,+min(14)(pterq11.1:)[100%] n.a. - + +
 short stature, webbing of neck, cubitus valgus, shield chest
{268}  
  A-20/
1-1 -
see also
20-U-2
- 45,X,+mar(20)[30%]/
46,XX[70%]
n.a. + + + {256}  
                   

 


   References

Cases with 45,X and an additional sSMC derived from the X-Chromosome (X)

 


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-
p22.3/
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-
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)
array-CGH 43.25-96.40 MB
+ n.a. + n.a. n.a. {0} provided by Dr. SW Cheung, Houston, USA  
  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~
11.3/
1-1
11 r(X)(p11.2~p11.3q21)[66%] /min(X)(p11.2~p11.3q21)[23%]
array-CGH 44.22-81.07 MB
+ n.a. n.a. + + {259}case rX-p11.2~11.3/1-1
{0}
 
  rX-
p11.22/
1-1
43 r(X)(p11.22q13.1)
array-CGH 54.09-67.73
MB
- + + 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-
p11.21/
1-1
33 r(X)(p11.21q13.2) + + - + + {2}  
  rX-
p11.21/
2-1
40 r(X)(::p11.21q21.2~q21.2::) + n.a. n.a. + + {259}case rX-p11.21/2-1  
  rX-
p11.2/
1-1
16 r(X)(p11.2q13) + + - + + {259}case rX-p11.2/1-1  
  rX-
p11.2/
2-1
80 r(X)(p11.3q12)
array-CGH 44.19-64.59 MB
+ n.a. + + + {259}case rX-p11.2/2-1
{0}
 
  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-
p11.1/
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)
array-CGH 58.45-63.54 MB
+ - - - + {0} provided by Dr. Baldermann, Halle  
  rX-
p11.1/
3-1
80 r(X)(p11.1q25)
array-CGH 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  
                     

    References



SMC(X) with ring shape (not clearly characterized)

 

                     
  case no. cells with 45,X (%)

sSMC karyotype

XIST presence 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  
  urXmos-1 + (% n.a.) r(X)/  mosXX/r(X)x2 + + + + + {3}  
  urXmos-2 - r(X) /mos i(Xq)/i(Xq),r(X) n.a. n.a. (+) + + {9}  
  urXmos-3 35 (amnio) r(X) 2 types +  &#;NBSP# - n.a. n.a. n.a. top {69}  
  urXmos-4 87 r(X)[8%]/r1(X),r2(X)[5%] n.a. n.a. + + + {44}  
  urXmos-5 10 r(X)[80%]/
large der(X)[10 ]
n.a. + + + + {29 }  
  urXmos-6 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}  
  urXmos-7 + (% n.a.) r(X)/XX + n.a. - - - {181}  
  urXmos-8 + (% n.a.) r(X)/
mar(X)/
r(X),mar(X)
+
-
 
n.a. n.a. n.a. n.a. {182}  
  urXmos-9 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}  
                     

 

 


   References

 

sSMC(X) with defined idic/ inv dup shape

 

                     
  case no. cells with 45,X (%) sSMC karyotype XIST presence lack of puberty/ amenorrhea (develop)mental retardation short stature others reference  
  iX-p11.1/
1-1
30 idic(X)(:p11.1q12::q12q11.1:)[54%]/
XX[16%]
- + - + +

{259} case iX-p11.1/1-1

 
                     

 


   References

 

sSMC(X) with defined centric minute shape

 

                     
 

case no.

cells with 45,X (%) sSMC karyotype XIST presence 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)(:p11.3q13.2:) - n.a. + + + {27} case 1  
  minX-
p11.3/
2-1
5 min(X)(:p11.3q12:) - n.a. + + + {27} case 3  
  minX-
p11.3/
3-1
93
(EKF-
cellbank)

r(X)(::p11.3q21.1::)[2]/
min(X)(:p11.3q21.1:)[3]/
min(X)(:p11.21q11.2:)[2]

- + n.a. + + {0} provided by Dr. Vilser, Jena, Germany
 
  minX-
p11.22/
1-1
40
mar in 50 and 46,XX in 10
min(X)(:p11.22q13.3:)[9]/ r(X)(::p11.22q13.3::)[1] + n.a. - + - {0} provided by Dr. Wafa, Damascus, Syria  
  minX-
p11.22/
2-1
- 46,X,min(X)(:p11.22q11.1:)[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-
p11.2/
1-1
-

min(X)(:p11.21q10:)[12%]/
min(X)(:p11.21q10::q10p11.21:)[3%]/
XX[85%]

- n.a. - - - {259} case minX-p11.2/1-1  
  minX-
p11.2/
2-1
9 min(X)(:p11.2q12:)[18%]/
min(X)(:q12p11.2::p11.2q12:)[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)(:p11.21q12:)[2]/min(X)(:p11.21q12::p11.1q11.1:)[1] - n.a. n.a. n.a. fd {0} provided by Dr. Gillessen-Kaesbach, Lübeck, Germany  
  minX-
p11.2/
3-1
53 min(X)(:p11.2q13.2~13.3:)[8]/
min(X)(:q13.2~13.3p11.2:
:p11.2q13.2~13.3:)[2]
- + - + + {0} provided by a lab in Debrcin, Hungary
 
  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
67 (Down syndrome - 46,X,+21) min(X)(:p11.1q11.1:) - n.a. n.a. n.a. + {11} case 6  
  minX-
p11.1/
1-2
0 but 46,XX in 78,1% min(X)(:p11.1q11.1:) - 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)(:p11.1q11.1:) - n.a. n.a. + n.a. {0} provided by Dr. Wafa, Damascus, Syria  
  minX-
p11.1/
1-4
mos min(X)(:p11.1q11.1:) - n.a. n.a. + n.a. {0} provided by Dr. Wafa, Damascus, Syria  
  minX-
p11.1/
2-1
60 min(:p11.1q11::q11p11.1 or q11p11.1::p11.1q11 or :q11p11.1::q11p11.1:) - n.a. n.a. + + {259} case minX-p11.1/2-1  
  minX-
p11.1/
3-1
46 min(X)(:p11.1q13.2~13.3:) + n.a. + - + {259} case minX-p11.1/3-1  
  minX-
p11.1/
4-1
32
(amnion)
mar1a=min(X)(:p11.1q11.21:)[9]/
mar1b=min(q11.21p11.1::p11.1q11.21)[4]/
mar1c=r(X)(::q11.21p11.1::p11.1q11.21: :q11.21p11.1::p11.1q11.21::)[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)(:p11.1q13.1:) + n.a. n.a. n.a. top {0} provided by Dr. Mehnert, Neu-Ulm, Germany  
  minX-
p11.1/
6-1
85 min(X)(:p11.1q22:) + n.a. n.a. n.a. top {290} case 27  
                     

 

sSMC(X) with centric minute shape (not clearly characterized)

 

                     
  case no. cells with 45,X (%) sSMC karyotype XIST presence 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 ~3% min(X) + n.a. n.a. - none {292}  
                     

 


   References

sSMC(X) with unclear shape (mar)

 

                     
  case no. cells with 45,X (%) sSMC karyotype XIST presence 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 marX-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