Atypical size deletions in patients with 22q.11.2 deletion syndrome: clinics and diagnosis
https://doi.org/10.1234/XXXX-XXXX-2015-11-18-22
Abstract
Relatively high incidence of 22q11.2 microdeletion determines the interest of a wide research community to the clinical profile of the carriers and molecular-genetic basis of the syndrome of 22q11.2 deletion (22q11.2 deletion syndrome, 22q11.2DS). Here we present the results of multiplex ligation-dependent probe amplification (MLPA) analysis performed on 28 patients with 22q11.2DS, deletion in which had been confirmed by FISH, in order to assess the deletion size. Six cases of the deletions of atypical size were chosen and enrolled for a subsequent analysis of their phenotypic features (these data are also reported here).
About the Authors
Y. O. Kozlova
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
V. V. Zabnenkova
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
V. G. Antonenko
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
N. V. Shilova
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
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Review
For citations:
Kozlova Y.O., Zabnenkova V.V., Antonenko V.G., Shilova N.V. Atypical size deletions in patients with 22q.11.2 deletion syndrome: clinics and diagnosis. Medical Genetics. 2015;14(11):18-22. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2015-11-18-22
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