alexa Abstract | Clinical Study: XIST Gene and Pattern of X-Inactivation in Children with Ring-X Turner Syndrome

Current Pediatric Research
Open Access

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)


Objectives: To evaluate the presence of XIST on ring X and to correlate the pattern of ring X replication to the IQ level. Subjects: Fifteen cases with TS who had 45,X/46,X,r(X). They were subjected to I.Q. estimation, FISH using WCP for X, locus specific identifier for XIST, differential replication pattern with BrdU for r(X). Results: By FISH, it was noted that these rings were derived entirely from the X chromosome. XIST was not deleted in all cases, a very small percentage of mosaic cell line was found in three cases who had deleted XIST and also two of them had double r(X). Ten cases had small rings, 5 had large rings. MR was found in 90% of cases with small r(X) while the large r(X) had normal mentality. A significant correlation was found between the presence of small ring X and lower IQ level. The correlations between the IQ level and age at presentation, percentage of r(X) and presence of active r(X) were not reaching a significant level. Conclusion: FISH is useful in identification of hidden cell line. The mentality in TS is affected by the presence of small r(X) and the presence of functioning XIST gene on the r(X).

To read the full article Peer-reviewed Article PDF image

Author(s): Mohamed AM Kamel AK Kayed HF Meguid NM Hussein HA


Ring X, XIST gene, Turner syndrome, X inactivation, Mental retardation

Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version