Research Article

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

Table 3

Karyotype characteristic of autosomal anomalies.

Translocations
ReciprocalMale karyotypes
46,XY,t(1;9)(q41;p23)1
46,XY,t(8;8)(p22;q23)1
46,XY,t(13;19)(q33;q11)1
46,XY,t(3;18)(q28;q22)1
46,XY,t(2;5)(p23;q35)1
Female karyotypes
46,XX,t(1;7)(p16;q11)1
46,XX,t(1;19)(p32;q13)1
46,XX,t(5;10)(p15;q16)1
46,XX,t(2;11)(q32;q21)1

Translocations
RobertsonianMale karyotypes
45,XY,rob(14;21)(q10;q10)1
46,XY,rob(13;13)(q10;q10),+131
Female karyotypes
45,XX,rob(21;21)(p10;p10)1
45,XX,rob(13;15)(q10;q10)1

Pericentric inversions
Male karyotypes
46,XY,inv(9)(p12q13)5
46,XY,inv(2)(p11;q13)1
Female karyotypes
46,XX,inv(9)(p12q13)4
46,XX,inv(12)(p13q12)1
46,XX,inv(8)(p22;q21.3)1
46,XX,9phqh1

Addition
Male karyotypes
46,XY,add(11)(q25)1

Deletion
Male karyotypes
46,XY,del(8)(q12q22)/46,XY1
Female karyotypes
46,XX,del(18)(q21)1

Chromosome marker
47,XY,+mar1

Satellite chromosome
46,XY,22S+1