Clinical and genetic characteristics of syndrome Phelan-Mcdermid
https://doi.org/10.1234/XXXX-XXXX-2015-11-14-17
Abstract
We present clinical and genetic characteristics of two patients with the syndrome of Phelen-McDermid due to deletions of chromosome 22q13 identified by standard karyotyping and chromosomal micromatrix analysis. It is shown that the peculiarities of the clinical manifestations correlate with the size of deletions due to number of genes of this region.
About the Authors
E. L. Dadali
Federal State Budgetary Institution «Research Centre of medical Genetics»
Russian Federation
Russian Federation
I. V. Kanivets
Federal State Budgetary Institution «Research Centre of medical Genetics»
Russian Federation
Russian Federation
I. V. Sharkova
Federal State Budgetary Institution «Research Centre of medical Genetics»
Russian Federation
Russian Federation
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Review
For citations:
Dadali E.L., Kanivets I.V., Sharkova I.V. Clinical and genetic characteristics of syndrome Phelan-Mcdermid. Medical Genetics. 2015;14(11):14-17. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2015-11-14-17
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