Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome
Identifieur interne : 008529 ( Ncbi/Curation ); précédent : 008528; suivant : 008530Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome
Auteurs : Pooja Chauhan [Inde] ; Sushil Kumar Jaiswal [Inde] ; Anjali Rani Lakhotia [Inde] ; Amit Kumar Rai [Inde]Source :
- Journal of Assisted Reproduction and Genetics [ 1058-0468 ] ; 2016.
Abstract
In the present study, we reported two cases of TS with mosaic ring X chromosome showing common clinical characteristics of TS like growth retardation and ovarian dysfunction. The purpose of the present study was to cytogenetically characterize both cases.
Whole blood culture and G-banding were performed for karyotyping the cases following standard protocol. Origin of the ring chromosome and degree of mosaicism were further determined by fluorescence in situ hybridization (FISH). Breakpoints and loss of genetic material in formation of different ring X chromosomes r (X) in cases were determined with the help of cytogenetic microarray.
Cases 1 and 2 with ring chromosome were cytogenetically characterized as 45, X [114]/46Xr (X) (p22.11q21.32) [116] and 45, X [170]/46, Xr (X) (p22.2q21.33) [92], respectively. Sizes of these ring X chromosomes were found to be ~75 and ~95 Mb in cases 1 and 2, respectively, using visual estimation as part of cytogenetic observation. In both cases, we observed breakpoints on Xq chromosome were within relatively narrow region between Xq21.33 and Xq22.1 compared to regions in previously reported cases associated with ovarian dysgenesis.
Our observation agrees with the fact that despite of large heterogeneity, severity of the cases with intact X-inactive specific transcript (XIST) is dependent on degree of mosaicism and extent of Xq deletion having crucial genes involved directly or indirectly in various physiological involving ovarian cyclicity.
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DOI: 10.1007/s10815-016-0761-x
PubMed: 27387888
PubMed Central: 5010817
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type="wicri:Area/Ncbi/Merge">008529</idno><idno type="wicri:Area/Ncbi/Curation">008529</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome</title><author><name sortKey="Chauhan, Pooja" sort="Chauhan, Pooja" uniqKey="Chauhan P" first="Pooja" last="Chauhan">Pooja Chauhan</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi</wicri:regionArea><wicri:noRegion>Varanasi</wicri:noRegion></affiliation></author><author><name sortKey="Jaiswal, Sushil Kumar" sort="Jaiswal, Sushil Kumar" uniqKey="Jaiswal S" first="Sushil Kumar" last="Jaiswal">Sushil Kumar Jaiswal</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi</wicri:regionArea><wicri:noRegion>Varanasi</wicri:noRegion></affiliation></author><author><name sortKey="Lakhotia, Anjali Rani" sort="Lakhotia, Anjali Rani" uniqKey="Lakhotia A" first="Anjali Rani" last="Lakhotia">Anjali Rani Lakhotia</name><affiliation wicri:level="1"><nlm:aff id="Aff2">Institute of Medical Sciences, Banaras Hindu University, Varanasi, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Institute of Medical Sciences, Banaras Hindu University, Varanasi</wicri:regionArea><wicri:noRegion>Varanasi</wicri:noRegion></affiliation></author><author><name sortKey="Rai, Amit Kumar" sort="Rai, Amit Kumar" uniqKey="Rai A" first="Amit Kumar" last="Rai">Amit Kumar Rai</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi</wicri:regionArea><wicri:noRegion>Varanasi</wicri:noRegion></affiliation></author></analytic><series><title level="j">Journal of Assisted Reproduction and Genetics</title><idno type="ISSN">1058-0468</idno><idno type="eISSN">1573-7330</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Purpose</title><p>In the present study, we reported two cases of TS with mosaic ring X chromosome showing common clinical characteristics of TS like growth retardation and ovarian dysfunction. The purpose of the present study was to cytogenetically characterize both cases.</p></sec><sec><title>Methods</title><p>Whole blood culture and G-banding were performed for karyotyping the cases following standard protocol. Origin of the ring chromosome and degree of mosaicism were further determined by fluorescence in situ hybridization (FISH). Breakpoints and loss of genetic material in formation of different ring X chromosomes r (X) in cases were determined with the help of cytogenetic microarray.</p></sec><sec><title>Results</title><p>Cases 1 and 2 with ring chromosome were cytogenetically characterized as 45, X [114]/46Xr (X) (p22.11q21.32) [116] and 45, X [170]/46, Xr (X) (p22.2q21.33) [92], respectively. Sizes of these ring X chromosomes were found to be ~75 and ~95 Mb in cases 1 and 2, respectively, using visual estimation as part of cytogenetic observation. In both cases, we observed breakpoints on Xq chromosome were within relatively narrow region between Xq21.33 and Xq22.1 compared to regions in previously reported cases associated with ovarian dysgenesis.</p></sec><sec><title>Conclusions</title><p>Our observation agrees with the fact that despite of large heterogeneity, severity of the cases with intact X-inactive specific transcript (XIST) is dependent on degree of mosaicism and extent of Xq deletion having crucial genes involved directly or indirectly in various physiological involving ovarian cyclicity.</p></sec></div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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