ChromosOmics - Database

Icon by Leon Liehr                   

              -  sSMC derived from ? in a 46 karyotype -           
  FEMALE

mong Turnersyndrome cases 6.6% carry an sSMC {308}

sSMC derived from X-chromosome
 sSMC derived from Y-chromosome
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
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
 References
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-
9/
1-1
 + (15%)
 46,X,+min(9)(:p12→q12:)[17]/45,X[3] n.a. n.a. n.a. prenatally aborted {0} provided from Greece
A-
14/
1-1 -
see also 14-U-13		 - 46,X,+min(14)(pter→q11.1:)[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}

Cases with 45,X and an additional sSMC derived in parts from an autosome - complex (Ac)

case no.
 cells with
45,X (%)  		sSMC
karyotype
 lack of puberty/
amenorrhea
 (develop-)
mental retardation
   short stature others
 References
Ac-
Y-11/
1-1		 + (8%)
 der(Y)t(Y;1 1)
(q12;q1?4)		 n.a. + - + {330}