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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

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).

Figure 2

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.
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,
TBX1 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.

Volume 21 (2018): Issue 1 (June 2018)
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