Description of a clinical case 16p13.3 microdeletion with manifestations of alpha-thalassemia-mental retardation syndrome, identified during the chromosomal microarray (CMA) testing
https://doi.org/10.1234/XXXX-XXXX-2015-11-50-52
Abstract
ATR-16 syndrome is a rare genetic disorder in which affected individuals have a deletion of distal part of short arm of chromosome 16, which contains several adjacent genes. Symptoms include mental retardation, alpha thalassemia, a blood disorder characterized by reduced levels of functional hemoglobin, microcephaly and clubfoot. ATR-16 syndrome occurs as a spontaneous (de novo) event with no previous family history or if one of the parents has balanced chromosomal translocation that is inherited in an unbalanced manner. The article presents the results of a clinical and genetics examinations of a 3,5-year-old girl with ATR-16 syndrome identified during the chromosomal microarray (CMA) testing.
About the Authors
I. V. Anisimova
Research Centre of Medical Genetics
Russian Federation
Russian Federation
I. V. Kanivets
Research Centre of Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Anisimova I.V., Kanivets I.V. Description of a clinical case 16p13.3 microdeletion with manifestations of alpha-thalassemia-mental retardation syndrome, identified during the chromosomal microarray (CMA) testing. Medical Genetics. 2015;14(11):50-52. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2015-11-50-52
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