FISH

SMALL SUPERNUMERARY MARKER CHROMOSOMES

- sSMC Y - 46 chrs. -

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)(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}