CYTOGENETICS KARYOTYPING

I. KARYOTYPING

mos 44,XY,+3,del(8)(q21),-11,-11,inv(15)(p11p22),-16,dup(17)(q12)[11]/46,XY,t(4;6)(q12.3;p21.3),upd(9)pat,+13,del(16)(q),del(18)(p11.1),-20[9]/45,XX,inv(5)(p21.3q33.3),t(9;10)(p11.1;p22.2),-18,dup(21)(q32.1.2),del(22)(p31.2)[7]/46,XY[23]

Karyogram of 50 cells examined. (NOTE: Deletions does not need to be specific)

46,X,-X+4,inv(7)(p21.3q12.2),+8,upd(10)mat,del(12)(p12),inv(13)(p21.3p22.1),del(15)(q32),t(16;17)(p21;q12),dup(19)(q21.3),-20,del(21)(q21.3)[60]

Chromosome analysis revealed the presence of five cell lines. The first cell line is a male chromosome complement affected with monosomy 3, paracentric inversion of chromosome 9 short arm region 3 band 2 up to short arm region 2 band 3, nullisomy 11, deletion of chromosome 15 short arm region 2 band 1, monosomy 16 and duplication of chromosome 17 long arm region 1 band 2 in 13 out of 50 cells examined. The second cell line is a male chromosome complement affected with trisomy 8, uniparental disomy 10 of maternal origin, tetrasomy 13, duplication of chromosome 16 short arm region 1 band 1 sub-band 1 sub-sub-band 1 and monosomy 20 in 10 out of 50 cells examined. The third cell line is a female chromosome complement affected with pericentric inversion of chromosome 5 short arm region 2 band 1 sub-band 3 up to long arm region 3 band 3 sub-band 3, interchromosomal translocation between chromosome 9 short arm region 1 band 1 sub-band 1 and chromosome 10 short arm region 2 band 2 sub-band 2, monosomy 18, duplication of chromosome 21 long arm region 3 band 2 sub-band 1 sub-sub-band 2 and deletion of chromosome 22 short arm region 3 band 1 sub-band 2 in 7 out of 50 cells examined. The fourth cell line is a male chromosome complement affected with triploidy and trisomy X in 5 out of 50 cells examined. The fifth cell line is a normal male chromosome complement in 15 out of 50 cells examined.

mos 44,XY,+3,del(8)(q21),-11,-11,inv(15)(p11p22),-16,dup(17)(q12)[11]/46,XY,t(4;6)(q12.3;p21.3),upd(9)pat,+13,del(16)(q),del(18)(p11.1),-20[9]/45,XY,inv(5)(p21.3q33.3),t(9;10)(p11.1;p22.2),-18,dup(21)(q32.1.2),del(22)(p31.2)[7]/46,XY[23]

Karyogram of 15 cells analyzed.

46,X,+1,inv(2)(p21.3q12.2),+3,upd(4)mat,del(5)(p12),inv(6)(p21.3p22.1),ins(7)(q32),t(8;9)(p21;q12),dup(10)(q21.3),-11,inv(13)(p12p21),del(14)(q2),-22

II. FISH

Ish t(13;22)(q34.2;q22.2)(ABL1+,BCR+;BCR+;ABL1+)

Given:
FITC - HIRA (22q22.2) - target locus
TRITC - ARSA (22qter) - control locus

FISH analysis was performed with the 2q32.1 to 2q22 probe (CBFB) and showed

evidence for a pericentric inversion at 2q32.1 up to 2q22 in 10 metaphase cells scored.

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