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Table 4 Distribution of sex chromosome mosaicism

From: Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities

KaryotypesIndications for cordocentesisPregnancy outcomes
45,X[12]/46,XX[8]foetal growth retardationInduced abortion
45,X[23]/46,XX[67]NIPT abnormalitiesInduced abortion
45,X[4]/46,XX[92]Foetal atrial septal aneurysmInduced abortion
45,X[11]/46,XX[44]Karyotype confirmation after amniocentesisInduced abortion
45,X[3]/46,XX[97]Advanced maternal agedeliver a girl by caesarean section
45,X[4]/46,XX[65]Karyotype confirmation after amniocentesisdeliver a girl by caesarean section
45,X[2]/46,XX[36]Karyotype confirmation after amniocentesisdeliver a girl by caesarean section
45,X[30]/46,XX[50]Karyotype confirmation after amniocentesisInduced abortion
46,X,+mar[81]/45,X[17]/47,X,+2mar[2]Karyotype confirmation after amniocentesisInduced abortion
46,X,i(X)(q10)[28]/45,X[2]Karyotype confirmation after amniocentesisInduced abortion
46,X,del(X)(p11)[17]/45,X[10]/46,X,+mar[6]Advanced maternal ageInduced abortion
45,X[21]/46,X,i(X)(q10)[20]/46,XX[59]cisterna magna> 10 mmInduced abortion
46,X,i(Y)(q10)[20]/45,X[6]Karyotype confirmation after amniocentesisInduced labour a boy without clear genitals
47,XXX[13]/46,XX[47]Karyotype confirmation after amniocentesisInduced abortion
47,XXY[10]/46,XY[42]Foetal hydronephrosisInduced abortion
47,XYY[48]/48,XXYY[20]Karyotype confirmation after amniocentesisInduced abortion