Table 1 Cytogenetic findings
TOTAL PATIENTS | 73 |
Cytogenetic analysis | 73 |
Normal Karyotype | 50 |
Chromosomal alterations: | |
1) Mosaic with 2 or more different cell lines with structural alterations | |
a) Mosaic in 3 tissues analyzed: PB, LS and DS | |
amos − 7/r(7)(p22q36.3)/normal | 1 |
mos del(18)(q21.3)/normal | 1 |
mos r(22)(p11.2q13.2)/normal | 1 |
amos + del (14) (q11.2)/+ 14/normal | 1 |
amos + der(X)(p21.1p11.1)/45,X/normal | 1 |
amos + del(14)(q11.1)/normal | 1 |
amos + idic(15)(q13.3)/normal | 1 |
Total | 7 |
b) Mosaic in LS and DS / PB normal | |
Skin: mos + i(12)(p10)/normal | 1 |
DS: mos t(1;8)(p?36;q?22)/normal | 1 |
Skin: mos + mar/normal | 1 |
Skin: mos + 12/normal | 3 |
aSkin: mos −18,+der(18)?del18/normal | 1 |
Skin: mos + mar1/+mar2/−12, +mar2/+mar1, +mar2/normal | 1 |
DS: mos +?22[3]/normal | 1 |
Total | 9 |
c) Mosaic in PB / Skin normal | |
PB: mos + mar/normal | 1 |
Total | 1 |
d) Mosaic in skin / PB, DS or LS all cells with alteration | |
mos r(22)(p11.2q13.2)/idic (22) (p11.2q13.2)/normal | 1 |
PB: r(22)(p11.2q13.3) | |
mos add(16)(p13.3)/normal | 1 |
DS: add(16)(p13.3) | |
Total | 2 |
2) Polyploidy (Mosaic) | |
mos 69,XXY/46,XY | 1 |
Total | 1 |
3) Alteration in all cells / 3 different tissues | |
t(X;22)(q11.2;q13.3) | 1 |
adel(13)(q21.3q32.1) | 1 |
adel(4)(p16.1p15.3) | 1 |
Total | 3 |
Total of Patients with chromosomal alterations | 23 |