A karyotype or chromosomal fragile X syndrome.

A karyotype or chromosomal fragile X syndrome.

Posted at 4:23 am on June 23rd, 2015

– The team led by Isabel Tejada then decided, a technique CNV CNV , ‘observing deletions and duplications of the genome is not visible under the microscope, ‘apply. ,, ‘we used aa technique as MLPA announced that at a series of probes or fragments of the genome analysis we wanted, there were three known similar cases with the common factor to the maternal. Inheritance our surprise, we found a doubling of a very small area, undescribed, and contained 7 genes arrays and the RPS6KA3 – related to mental retardation, ‘said the geneticist..

New syndrome Easy family Intellectual Disability of researchers at Cruces Hospital Describeddirected the financial contributions a few years ago by individuals and public administrations in the televisual marathon solidarity action on the Basque Public Broadcasting Corporation and then by the Basque Foundation for Health Innovation and research has, in the implementation of successful innovative research at the Cruces Hospital near Bilbao in the Basque province of Biscay, a new syndrome of intellectual disability limited family describes performed.The research , in collaboration with BGI – Shenzhen, Ghent University, Austria Belgium, the University of Copenhagen, Denmark, CA Institute of Technology in implemented, which Ontario Institute for Cancer Research, Canadian and Macquarie University.

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