FISH

SMALL SUPERNUMERARY MARKER CHROMOSOMES

- sSMC Y - 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 a Y-chromosome, phenotype male (mY)


Cases with 45,X and an additional sSMC derived from a Y-chromosome, phenotype female (fY)


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