Cargando…
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...
Autores principales: | Vaisvilas, M, Dirse, V, Aleksiuniene, B, Tamuliene, I, Cimbalistiene, L, Utkus, A, Rascon, J |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sciendo
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231321/ https://www.ncbi.nlm.nih.gov/pubmed/30425917 http://dx.doi.org/10.2478/bjmg-2018-0002 |
Ejemplares similares
-
Interstitial duplication of 20q11.22q13.11: A case report and review of literature
por: Goetzinger, Logan, et al.
Publicado: (2021) -
Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report
por: Aleksiūnienė, Beata, et al.
Publicado: (2017) -
MLL-SEPT5 Fusion Transcript in Two de novo Acute Myeloid Leukemia Patients With t(11;22)(q23;q11)
por: Wang, Nana, et al.
Publicado: (2016) -
MLL-SEPT5 Fusion Transcript in Myelodysplastic Syndrome Patient With t(11;22)(q23;q11)
por: Zou, Duobing, et al.
Publicado: (2021) -
A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects
por: Kalinauskiene, Ruta, et al.
Publicado: (2023)