Have a personal or library account? Click to login
A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders − Case report Cover

A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders − Case report

Journal of Mother and Child
Volume 21 (2017): Issue 2 (June 2017)
By: Joanna Bernaciak,  Barbara Wiśniowiecka-Kowalnik,  Jennifer Castañeda,  Anna Kutkowska-Kaźmierczak and  Beata Nowakowska  
Open Access
|Aug 2017

Figures & Tables

Fig. 1

Array CGH analysis in our patient showing an 424 kb deletion in chromosome 20q13.11q13.12. Two genes are deleted: SFRS6 , L3MBTL and first exon of PTPRT gene. Ryc. 1. W badaniu metodą aCGH u naszego pacjenta stwierdzono delecję regionu 20q13.11q13.12 o wielkości 424 kb. Delecji uległy dwa geny: SFRS6 , L3MBTL oraz pierwszy ekson genu PTPRT.
Array CGH analysis in our patient showing an 424 kb deletion in chromosome 20q13.11q13.12. Two genes are deleted: SFRS6 , L3MBTL and first exon of PTPRT gene. Ryc. 1. W badaniu metodą aCGH u naszego pacjenta stwierdzono delecję regionu 20q13.11q13.12 o wielkości 424 kb. Delecji uległy dwa geny: SFRS6 , L3MBTL oraz pierwszy ekson genu PTPRT.
DOI: https://doi.org/10.34763/devperiodmed.20172102.9194 | Journal eISSN: 2719-535X | Journal ISSN: 2719-6488
Journal RSS Feed
Language: English
Page range: 91 - 94
Submitted on: Jun 7, 2017
Accepted on: Jun 14, 2017
Published on: Aug 11, 2017
Published by: Institute of Mother and Child
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
aCGH,
microdeletion 20q13.11q13.12,
neurodevelopmental disorders,
PTPRT gene
Related subjects:
Medicine,
Clinical medicine,
Pediatrics and juvenile medicine,
Paediatric haematology and oncology,
Public health

© 2017 Joanna Bernaciak, Barbara Wiśniowiecka-Kowalnik, Jennifer Castañeda, Anna Kutkowska-Kaźmierczak, Beata Nowakowska, published by Institute of Mother and Child
This work is licensed under the Creative Commons Attribution 4.0 License.

Previous articleVolume 21 (2017): Issue 2 (June 2017)Next article