In addition to identifying all clinically relevant variants previously detected by
karyotyping and CMA, Saphyr revealed additional structural variants of research interest that were missed by these methods, including deletions of the TP53 and TET2 genes, which potentially have prognostic and therapeutic implications.
For the cases without prenatal
karyotyping, chromosome analysis was performed postnatally according to the clinical findings.
Conventional
karyotyping allows the genome-wide detection of chromosome anomalies at a rather low resolution (>8-10 Mb) depending on the banding level.
This study was planned to analyse the clinical and karyotypic profile of a section of these children and to correlate the dysmorphology with the results of
karyotyping.
The reduced rate of sSMCs in postnatal cases compared to prenatal can be due to: (i) the effect of maternal age on the need for prenatal diagnosis, (4) (ii)
karyotyping, as an invasive prenatal diagnosis method, is carried out in one-third of the cases with a suspected condition, and (iii) the fact that 4.4% of sSMC pregnancies end with stillbirth or spontaneous abortion.
With respect to assessing the origin of the translocation,
karyotyping of the parents was performed.
Resultantly, the patients with delayed milestones, presence of ambiguous genitalia, mental problems and spontaneous miscarriages in couples are referred for
karyotyping by the clinicians/ physicians.6
The recent developments in the molecular biology of this clinically, morphologically, and phenotypically heterogeneous disease lead us to a more comprehensive diagnostic approach, including conventional
karyotyping, fluorescence in situ hybridization, polymerase chain reaction, and nextgeneration DNA sequencing (NGS) and enable us to predict the prognosis in these patients and develop more effective targeted treatments.
Moreover, through these modern technique and procedures, comparative genetic and cytogenetic studies can conducts
karyotyping and genome evolution in members of Brassicaceae (Lysak and Koch, 2011).
Material and Methods: A total of 151 patients who reported for work-up of DSD during 2012-2015 and labeled XY on
karyotyping were included in the study.
Hereby we present a case of double trisomy 48,XXX,+18 diagnosed by
karyotyping of placental tissue.
Large number of studies regarding the
karyotyping and gene abnormalities has enabled a clearer understanding of AML pathology during the last few decades.
