Cargando…
6q21–22 deletion syndrome with interrupted aortic arch
Interstitial deletion of 6q21–22 has been previously reported in 11 individuals, who presented with intellectual disability, facial dysmorphism, cardiac abnormality, cerebellar hypoplasia and dysplasia of the corpus callosum. Here, we report the first instance of a patient with 6q21–22 deletion pres...
Autores principales: | Matsumoto, Ayumi, Nozaki, Yasuyuki, Minami, Takaomi, Jimbo, Eriko F, Shiraishi, Hirohiko, Yamagata, Takanori |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785536/ https://www.ncbi.nlm.nih.gov/pubmed/27081529 http://dx.doi.org/10.1038/hgv.2015.15 |
Ejemplares similares
-
LIN7A Depletion Disrupts Cerebral Cortex Development, Contributing to Intellectual Disability in 12q21-Deletion Syndrome
por: Matsumoto, Ayumi, et al.
Publicado: (2014) -
The ATRX splicing variant c.21-1G>A is asymptomatic
por: Kojima, Karin, et al.
Publicado: (2022) -
Myeloid leukemia with t(7;21)(p22;q22) and 5q deletion
por: PANAGOPOULOS, IOANNIS, et al.
Publicado: (2013) -
Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report
por: Vlădăreanu, Radu, et al.
Publicado: (2023) -
Delayed biventricular repair of interrupted aortic arch with left ventricular outflow tract obstruction in 22q11.2 deletion syndrome: a case report
por: Van den Eynde, Jef, et al.
Publicado: (2022)