Chromosome Abnormalities Related to Reproductive and Sexual Development Disorders: A 5-Year Retrospective Study

Table 2

Karyotype characteristic of gonosomal anomalies.

Types of disorder	Cytogenetic grade	Karyotype	Cases
Klinefelter syndrome	Pure Klinefelter	47,XXY	45
	Aneuploidies	46,XXY,t(21;22)(q10;q10)	1
		48,XXYY,22S+	1
Turner syndrome	Pure Turner	45,X	23
	Turner’s mosaic with number aberration	45,X/46,X,+mar	7
		45,X/46,XX	5
		45,X/46,X,+mar/47,X,+mar x2	1
		45,X/47,XXX	1
	Turner’s mosaic with structural anomalies	45,X/46,X,i(Xq)	8
		45,X/46,X,der(X)	2
		45,X/46,X,idic(X)(p23)	1
		45,X/46,X,del(Xp)	2
		45,X/46,X,dup(X)(q13q28)	1
		45,X/46,X,der(X)t(X;X)(q12q11.3)/47,X,der(X)	1
		t(XX)(q12q11.3),der(X)t(XX)(q11q11.3)
		45,X/46,X,r(X)	1
		45,X/46X,dic(X)(pter → q?)/der(X)	1
	Structural abnormalities of chromosome X	46,X,i(X)(q10)	2
		46,X,del(X)(p21 → pter)	1
Triple X syndrome		47,XXX	2
		48,XXX,+21	1
		47,XXX,t(13;21)(q12;q22)	1
Jacob’s syndrome		47,XYY	2
		46,XY/47,XYY	2
Male sex reversal		46,XX	11
		47,XX,+21	1
Female sex reversal		46,XY	20
		46,XY,del(6)(q25)	1
Mixed gonadal dysgenesis		45,X/46,XY	2
		45,X/46,X,idic(Y)(p11.3)	1
		45,X/46,X,idic(Y)(q12)	1
		45,X/46,X,idic(Y)(p11)/47,XYY	1
		45,X/47,X,+mar1,+mar2	1
Y structural abnormalities	Derivative	46,X,der(Y)add(?;Y)	1
	Translocation	45,X,t(Y;9)(p11;q34)	1
Chimerism		46,XY/46,XX	1