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Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo 22q11.1q11.22 duplication Cover

Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo 22q11.1q11.22 duplication

Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 1 (June 2018)
By: M Vaisvilas,  V Dirse,  B Aleksiuniene,  I Tamuliene,  L Cimbalistiene,  A Utkus and  J Rascon  
Open Access
|Oct 2018

Figures & Tables

Figure 1

Dysmorphic facial features of the proband at the age of 6: a broad flat nose, down slanting palpebral fissures, hypertelorism, and mild ptosis are noted (permission of parents to publish the picture was obtained).
Dysmorphic facial features of the proband at the age of 6: a broad flat nose, down slanting palpebral fissures, hypertelorism, and mild ptosis are noted (permission of parents to publish the picture was obtained).

Figure 2

The marker chromosome revealed by conventional karyotyping at the age of 3 before pre-B-ALL developed is indicated by an arrow.
The marker chromosome revealed by conventional karyotyping at the age of 3 before pre-B-ALL developed is indicated by an arrow.

Figure 3

A de novo 6.6 Mb gain at 22q11.1-q11.22 chromosome region detected by SNP array (red arrow) at the age of 3 before pre-B-ALL developed. Genes that might play a role on oncogenesis in the area of duplication are displayed.
A de novo 6.6 Mb gain at 22q11.1-q11.22 chromosome region detected by SNP array (red arrow) at the age of 3 before pre-B-ALL developed. Genes that might play a role on oncogenesis in the area of duplication are displayed.
DOI: https://doi.org/10.2478/bjmg-2018-0002 | Journal eISSN: 2199-5761
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Language: English
Page range: 87 - 91
Published on: Oct 29, 2018
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Congenital heart defect,
Facial dysmorphia,
Leukemia,
Leukemogensis,
Malrotation of the intestine,
gene,
22q11.1q11.22 duplication
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2018 M Vaisvilas, V Dirse, B Aleksiuniene, I Tamuliene, L Cimbalistiene, A Utkus, J Rascon, 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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