FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16

Advances in the detection of chromosomal aberrations using spectral karyotyping

“…SKY possesses the greatest sensitivity, to date, for detecting hidden translocations. This is evident in the rapidly growing number of published reports that demonstrate SKY to be a sensitive and effective method for detecting chromosomal abnormalities for prenatal diagnosis, constitutional aberrations associated with congenital abnormalities, mosaicism, as well as for reproductive technology [39–45]. Shown in Fig.…”

“…The use of SKY for elucidation of ambiguous results in prenatal testing is well documented [41,42,44,46,47]. Peschka et al [46] detected a complex chromosomal rearrangements resulting in four derivative chromosomes from 4, 11, 12, and 13 in a prenatal male fetus of a twin pregnancy.…”

Prenatal diagnosis ofde novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertainedde novo apparently balanced complex and multiple chromosomal rearrangements

“…Interestingly, our case was prenatally detected because of a low level of MSAFP and a high level of MShCG in the second trimester. The associations of de novo apparently balanced CCRs or MCRs with high-risk maternal screening results for Down syndrome have been previously described (Ruiz et al, 1996;Calabrese et al, 1998;Phelan et al, 1998). Batista et al (1993), Cotter et al (1996), and Balícek et al (2001) additionally described abnormal MSAFP levels in association with de novo apparently balanced CCRs or MCRs.…”

The clinical application of spectral karyotyping (SKY™) in the analysis of prenatally diagnosed extra structurally abnormal chromosomes (ESACs)

“…Interestingly, however, there are only a few reports in the medical literature describing the use of SKY in prenatal diagnosis, as partly reviewed by Bayani and Squire (Bayani and Squire, 2001). Phelan et al reported the use of SKY in the elucidation of a prenatal case with a complex chromosomal rearrangement involving nine breakpoints on four different chromosomes (Phelan et al, 1998). Likewise, Peschka et al described the use of SKY in the prenatal elucidation of a de novo complex chromosome rearrangement involving eight breakpoints on four different chromosomes (Peschka et al, 1999).…”