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A novel de novo paracentric inversion [inv(20)(q13.1q13.3)] accompanied by an 11q14.3-q21 microdeletion in a pediatric patient with an intellectual disability Cover

A novel de novo paracentric inversion [inv(20)(q13.1q13.3)] accompanied by an 11q14.3-q21 microdeletion in a pediatric patient with an intellectual disability

Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 2 (December 2018)
By: S Zachaki,  E Kouvidi,  A Mitrakos,  L Lazaros,  A Pantou,  A Mavrou,  M Tzetis and  KN Manola  
Open Access
|Dec 2018

Figures & Tables

Figure 1

Patient’s karyotype [46,XY,inv(20)(q13.1q13.3)] detected by a conventional cytogenetic G-banding technique.
Patient’s karyotype [46,XY,inv(20)(q13.1q13.3)] detected by a conventional cytogenetic G-banding technique.

Figure 2

A diagram of the 4.5 Mb 11q deletion (89545468-94077250).
A diagram of the 4.5 Mb 11q deletion (89545468-94077250).

Relevant array comparative genomic hybridization findings, genes content and characterization_

Chromosomal Region/SizeStart (hg19)End (hg19)GenesCharacterization
del 11q14.3-q21 (4.5 Mb)8954546894077250TRIM53AP, TRIM64B, TRIM49D2, TRIM49D1, TRIM64, TRIM49C, UBTFL1, NAALAD2, CHORDC1, DISC1FP1, MIR4490, MIR1261, FAT 3, LOC105369431, MTNR1B, SLC36A4, CCDC67, SMCO4, CEP295, SCARNA9, SNORA25, SNORA32, SNORD6, SNORA1, SNORA8, SNORD5, SNORA18, MIR1304, SNORA40, TAF1D, C11orf54, MED17, VSTM5, HEPHL1, PANX1, IZUMO1Runcertain clinical significance
del 20q12 (1.97 Mb)3815742840128669LINC01370, MAFB, LOC100128988, TOP1, PLCG1-AS1, PLCG1, MIR6871, ZHX3, LPIN3, EMILIN3, CHD6uncertain clinical significance
del 20q13.12 (100 kb)4391641444016199MATN4, RBPJL, SDC4, SYS1, SYS1-DBNDD2, TP53TG5copy polymorphism number
DOI: https://doi.org/10.2478/bjmg-2018-0016 | Journal eISSN: 2199-5761
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Language: English
Page range: 63 - 67
Published on: Dec 31, 2018
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Array comparative genomic hybridization (aCGH),
G-banding,
Microdeletion,
Microduplication,
Paracentric inversion (PAI)
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2018 S Zachaki, E Kouvidi, A Mitrakos, L Lazaros, A Pantou, A Mavrou, M Tzetis, KN Manola, 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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