46,XY,t(5;6)(q15;q23.3)

Balanced

45,XY,der(14;15)(q10;q10)

Balanced

Robertsonian Translocation

45,XY,der(14;21)(q10;q10)

Balanced

Robertsonian Translocation

45,XX,der(21;21)(q10;q10)

Balanced

Robertsonian Translocation

45,XX,der(13;14)(q10;q10)

Balanced

Robertsonian Translocation

46,XX,t(1;5)(p10;p10)

Balanced

Whole arm translocation

46,XY,t(3;5)(q25.3;q15)

Balanced

46,X,del(X)(q13.3)

Deletion below band q13.3

46,XX,del(4)(p15.2)

Wolf-Hirschhorn Syndrome

46,XX,del(5)(p14.2)

Cri-du-chat Syndrome

46,XX,dup(7)(q22.3q34)

Note:  No semicolon (;) between breakpoints in same chromosome

46,XY,inv(1)(p12q12)

Pericentric Inversion

48,XY,+21,+mar

Down Syndrome with extra unidentified marker chromosome

46,XX,+13,der(13;14)(q10;q10)

Patau Syndrome

Resulting from unbalanced Robertsonian Translocation

46,XX,der(21;21)(q10;q10)

Down Syndrome

Resulting from unbalanced Robertsonian Translocation

Note:  Extra 21 is understood due to modal number of 46

Deletion

Chromosomal abnormality that has not been inherited

De novo

p

Translocation

Which of the following is correct?

46,XY,t(11;22)(q23q11)

46,XY.t(11;22)(q23;q21)

46,XY,T(11;22)(q23;q21)

46,XY,t(11;22)(q23;q21)

Which of the following correctly describes a female carrier of a Down Syndrome translocation?

46,XX,der(13;21)(q10;q10)

45,XX,der(13;21)(q10;q10)

46,XX,der(13;21)(q10;q10),+21

45,XX,der(13;21)(q10;q10),-21

Which of the following is an unbalanced translocation?

45,XX,der(21;21)(q10;q10)

46,XY,inv(1)(p11.2q11.2)

46,XX,der(22)t(9;22)(q34;q11)

46,XX,del(5)(p15)