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Table 2 Summary of chromosomal aberrations (n = 125)

From: Prenatal screening of cytogenetic anomalies – a Western Indian experience

 

Chromosomal abnormalities

Number

numerical anomalies* (n = 68)

47,XN,+13

2

47,XN,+18

11

47,XN,+21

41

45,XN,-21

1

46,XN/47,XN,+21

1

45,X

7

45,X/46XN

1

46,XN/47,XN,+2

2

69,XNN

1

92,XNNN

1

structural anomalies (n = 57)

reciprocal translocation (n = 12)

46,XN,t(2;20)(q23;q13.1)

1@

46,XN,t(2;21;4)(p12;q21;q34)

1

46,XN,t(4;16)(p14;q13)

1

46,XN,t(7;21)(p32;q22)

1

46,XN,t(9;10)(q13;q11.2)

1

46,XN,t(11;22)(q13.2;q11.2)

1

46,XN,t(12;18)(p11.2;q11.2)

1

46,XN,t(16;18)(p13;q11)

1

46,XN,t(18;19)(p11.2;p13)

1

46,XN,t(X;7)(p22.2;p21)

1

46,XN,add(2)t(2;10)(p23;q22)

1

46,XN,der(9)t(9;?)(q13;?)

1***

Robertsonian translocation (n = 8)

45,XN,rob(13;14)(q10;q10)

2#

45,XN,rob(21;22)(q10;q10)

1

45,XN,rob(14;15)(q10;q10)

1

46,XN,rob(13;21),+21

1

46,XN,rob(14;21),+21

2

46,XN,rob(21;21)(q10;q10),+21

1

deletion (n = 2)

46,XN,der(X),del(X)p11

1

46,XN,del(16)(q13;q22)

1

sSMC (n = 6)

47,XN,+mar.ish inv dup(Y)(pter- > Yp11.2::Yp11.2- > pter)

1

48,XN,+inv dup(13 or 21)(q10),+del(13 or 21)(q10)

1

47,XN,+mar

2**

46,XN/47,XN,+mar

2**

isochromosome (n = 1)

46,XN,i(X)(q10)

1

inversion (n = 6)

46,X,inv(Y)

6

variant (n = 22)

Satellite and heterochromatic polymorphism

22

  1. * Four cases initially showed chromosomal aberrations and later on found as normal in second sample, hence they are not included the study as abnormal.
  2. ** Parents opted for termination and no further characterization was done.
  3. *** Patient declined for further analysis.
  4. # Detail history in case 8.
  5. @ Except 46,XN,t(2;20)(q23;q13.1) all the translocations were derived from one of the parents.