tl_files/tiny_templates/Bilder TL/Header-sSMC.jpg

- sSMC Y -

in 46 CHROMOSOMES

References

 

Among Turnersyndrome cases 6.6% carry an sSMC {308}

   

phenotype male (mY)

     
  ring shape inv dup shape
 
  centric minute shape undefined shape (mar)  
      DISCLAIMER    

 

   

phenotype female (fY)

     
  ring shape inv dup shape
 
  centric minute shape undefined shape (mar)  
      DISCLAIMER    

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


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


References

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}