نتایج جستجو برای: microdeletion

تعداد نتایج: 1516  

2014
Pichet Termsarasab Amy C. Yang Jennifer Reiner Hui Mei Stuart A. Scott Steven J. Frucht

BACKGROUND Four cases of paroxysmal kinesigenic dyskinesia (PKD) have been reported in individuals with proximal 16p11.2 microdeletions that include PRRT2. CASE REPORT We describe a fifth patient with PKD, features of Asperger's syndrome, and mild language delays. Sanger sequencing of the PRRT2 gene did not identify any mutations implicated in PKD. However, microarray-based comparative genomi...

Journal: :Congenital Heart Disease 2022

A maternally inherited 828 kb microdeletion of 2q37.3 manifested in a 3-week-old premature boy as left juxtaposition the atrial appendages associated with tricuspid atresia, double outlet infundibulum, subvalvar pulmonary large secundum septal defect, and right aortic arch mirror-image branching, consistent developmental arrest early heart looping. To best our knowledge, no previous 2q37 deleti...

Journal: :Scholars Journal of Medical Case Reports 2020

Journal: :Obstetrics and Gynaecology Cases - Reviews 2015

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