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A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder Cover

A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder

Balkan Journal of Medical Genetics
Volume 19 (2016): Issue 2 (December 2016)
By: I Görker,  H Gürkan,  S Demir Ulusal,  E Atlı and  E Ikbal Atlı  
Open Access
|Dec 2016

Figures & Tables

Subtelomeric FISH image of chromosome 8 and 22 (A-B: father; C-D: mother; E-F: patient, duplication 8p and deletion 22q signals).
Subtelomeric FISH image of chromosome 8 and 22 (A-B: father; C-D: mother; E-F: patient, duplication 8p and deletion 22q signals).
The 8p23.3-23.2 gain and 22q13.33 deletion in the patient.
The 8p23.3-23.2 gain and 22q13.33 deletion in the patient.

Copy number variants detected in the patient_

ChromosomeCytobandStartStopArray AberrationAberration Size (bp)Genes
8p23.3-p-23.2191,5315,248,586duplication5,057,05612 genes

ZNF596, FBXO25, C8orf42, ERICH1, LOC286083, DLGAP2, CLN8, MIR596, ARHGEF10, KBTBD11, MYOM2, CSMD1.

22q13.31-q13.3346,863,08651,178,264deletion4,315,17845 genes

CELSR1, GRAMD4, CERK, TBC1D22A, FLJ46257, MIR3201, FAM19A5, C22orf34, BRD1, LOC90834, ZBED4, ALG12, CRELD2, PIM3, IL17REL, MLC1, MOV10L1, PANX2, TRABD, SELO, TUBGCP6, HDAC10, MAPK12, MAPK11, PLXNB2, FAM116B, PPP6R2, SBF1, ADM2, MIOX, LMF2, NCAPH2, SCO2, TYMP, ODF3B, KLHDC7B, C22orf41, CPT1B, CHKB-CPT1B, CHKB, LOC100144603, MAPK8IP2, ARSA, SHANK3, ACR.

DOI: https://doi.org/10.1515/bjmg-2016-0041 | Journal eISSN: 2199-5761
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Language: English
Page range: 85 - 90
Published on: Dec 31, 2016
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Autism spectrum disorder (ASD),
Phelan McDermid Syndrome (PHMDS),
22q13.3 deletion
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2016 I Görker, H Gürkan, S Demir Ulusal, E Atlı, E Ikbal Atlı, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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