Anbarasan A
SIMATS University, IndiaPresentation Title:
The hunt for the elusive ‘Y’: A search for hidden mosaicism for the Y chromosome or its derivative in patients diagnosed with non-mosaic monosomy X on karyotype
Abstract
Background: Monosomy of the X chromosome (45,X), frequently manifests as mosaicism with another cell line in addition to the 45,X cell line. The second cell line usually has two sex chromosomes - a normal X chromosome with an additional structurally normal or abnormal X or Y. Patients with Y chromosomal material usually have testicular tissue that may or may not be dysgenetic and present variably as females with Turner syndrome, sexually ambiguous males or females, or normal males. The presence of Y chromosomal fragments in patients with dysgenetic gonads is clinically concerning because this carries a risk of malignant germ cell tumors.
Aim: To determine the frequency of Y chromosomal sequences among patients with non-mosaic monosomy X on karyotype using Multiplex Polymerase chain reaction (mPCR) and Fluorescence in situ Hybridization (FISH).
Methods: Stored cell pellets from patients diagnosed with non-mosaic monosomy X on karyotype were used for FISH and to extract DNA for mPCR. mPCR was done using primers amplifying SRY, TSPY, ZFX/Y and DYZ1 loci on the Y chromosome. FISH was performed using a three-color probe targeting X centromere, SRY and Yq12. Samples positive by both methods were considered positive.
Results: Among 186 cases of monosomy X, 44(23.7%) had non-mosaic monosomy X on the G-banded karyotype. None of these patients exhibited virilization. Y chromosomal fragments were not found in the examined 44 samples on mPCR or FISH.
Conclusion: We could not find evidence to support further evaluation of peripheral blood of non-virilized patients with non-mosaic monosomy X on karyotype.
Biography
Anbarasan completed his MD at the age of 29 years from All India Institute of Medical Sciences, Bhubaneswar and he also completed a postdoctoral fellowship in cytogenetics at the age of 32 years from Christian Medical College, Vellore, India. He is currently the Head in-charge of the genetic lab, at SIMATS University, India. He was awarded in several conferences for his presentation. He has been serving as a reviewer of several reputed journals. He is actively involved in karyotyping, Fluorescence Insitu Hybridization (FISH), Chromosomal micro-array, qf-PCR, DNA sequencing and effective diagnosis, correlation and communication of the results to concerned clinicians for effective and early diagnosis. Actively driving various scientific meetings (CMEs) on FISH techniques for budding geneticists and multi-specialty physicians
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