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

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

Microdeletions and microduplications are recurrent in the q11.2 region of chromosome 22. The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from severe intellectual disability, facial dysmorphism, heart defects, and urogenital abnormalities to very mild sympt...

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Bibliographic Details
Main Authors: Vaisvilas M, Dirse V, Aleksiuniene B, Tamuliene I, Cimbalistiene L, Utkus A, Rascon J
Format: Article
Language:English
Published: Sciendo 2018-10-01
Series:Balkan Journal of Medical Genetics
Subjects:
congenital heart defect
facial dysmorphia
leukemia
leukemogensis
malrotation of the intestine
tbx1 gene
22q11.1q11.22 duplication
Online Access:https://doi.org/10.2478/bjmg-2018-0002

Internet

https://doi.org/10.2478/bjmg-2018-0002

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