Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women

Table 1

Summary of the chromosomal abnormalities found in the POF patient group.

X chromosome structural abnormalities	nonmosaic	46,X,t(X;2)(q21.33;q14.3)
	nonmosaic	46,X,der(X)t(X;9)(q21.33;p22.3)*
	nonmosaic	46,X,der(X)t(X;19)(p21.1;13.42)^#
	nonmosaic	46,X,der(X)t(X,X)(q21.3;p21)*
	nonmosaic	46,X,del(X)(q21.2→qter)*
	nonmosaic	46,X,del(X)(q22.3→q27)*
	nonmosaic	46,X,del(X)(q26.2→qter)*
	nonmosaic	46,X,del(X)(p21→pter?)
	nonmosaic	46,X,del(X)(p21.2)
	nonmosaic	46,X,psudic(X)(q10;q10)
	nonmosaic	46,X,del(X)(q21.1;q21.3)
	nonmosaic	46,X,der(Y)t(X;Y)(q13.1;q11.223)^†
	nonmosaic	46,X,der(X)t(X;Y)(q26.2;q11.223)
	mosaic	46,X,psudic(X)(q23;q23)[75]/45,X[25]
	mosaic	45,X[97]/46,X,psudic(X)(q22;q22)[3]*
	mosaic	45,X[29]/46,X,der(X)t(X;X)(q21.2;p22.33)[47]
X chromosome numerical abnormalities	nonmosaic	47,XXX
	nonmosaic	45,X
	mosaic	46,XX[99]/45(X)[24]
	mosaic	46,XX[96]/47,XXX[4]
	mosaic	46,X[96]/45,X[4]
	mosaic	46,X[96]/45,X[4]
Autosomal structural abnormalities	nonmosaic	46,XX,t(4;5)
	nonmosaic	46,XX,t(3;7)(q23;p12)
	mosaic	47,XX,+i(9)(p10)[72]/46,XX[28]
Autosomal numerical abnormalities	nonmosaic	47,XX,+21
	mosaic	46,XX[54]/47,XX+18[36]^§

*Marozzi et al. (2000) [28]; ^#Maraschio and Fraccaro (1983) [33]; ^§Bettio et al. (2003) [34]; ^†Lissoni et al. (2009) [35]. Square brackets, placed after the karyotype description, are used to designate the absolute number of cells in each clone, as stated by the International System for Human Cytogenetic Nomenclature 2009.