Summary of the chromosomal abnormalities diagnosed in our study Numerical anomalies CVS 47,XN, +21 25 47,XN, +18 11 47,XN, +13 2 45,X 3 47,XN, +17 1 47,XN, +7 1 47,XXX 47,XXY (Klinefelter syndrome) (*) 2 69,XXX Structural anomalies Reciprocal translocation
46,XN, t(2;11)(q35;q25) 46,XN, t(1;16)(p13.
Cytogenetical study of 25 conventionally stained metaphases from 450-band resolution on the basis of GTG-banding technique revealed an apparently balanced reciprocal translocation
involving the short arm of chromosome 1(p2) and the long arm of the X chromosome (q2) in all the cells with the following karyotype: 46,X, t(1; X)(p13;q22) (figure 1).
For couples in whom one or more partners have a reciprocal translocation
, preimplantation genetic diagnosis (PGD) reduced the frequency of spontaneous abortions to 12.
B), Base level description of individual sequencing reads represented in 5'-3' positive strand orientation spanning the translocation breakpoint for each of the reciprocal translocation
10) The translocation trisomy 21 present in Down syndrome patients can be created spontaneously de novo during gametogenesis in one of the parents or it can be inherited from parents' carrier of Robertsonian translocation or of reciprocal translocations
is the most common chromosomal abnormality found in 1 in 500 people (11).
4 In this report, we describe a balanced reciprocal translocation
, t(10;13)(q24; q14), in a woman with RM.
A reciprocal translocation
does not change the amount of chromosomal material, but only the order of the genetic material.
This particular reciprocal translocation
has a long segment from chromosome 7C attached to chromosome 17, and a short segment from chromosome 17 attached to chromosome 7C.
As a result of reciprocal translocation
, a new and abnormal protein, Bcr-Abl, causes the uncontrolled proliferation of white blood cells.
1,2) Morphologically classified as AML-M3 by the French-American-British (FAB) classification, APL is typically characterized by neoplastic proliferation of cells in the bone marrow with a promyelocytic phenotype and the balanced reciprocal translocation
t(15; 17) (q24.