Cargando…
Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report
BACKGROUND: Except for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. A clinically distinct phenotype is usually observed in these cases, and no clear genotype-phenotype correlation is proposed. RESULTS:...
Autores principales: | Krgovic, Danijela, Marcun Varda, Natasa, Zagorac, Andreja, Kokalj-Vokac, Nadja |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170628/ https://www.ncbi.nlm.nih.gov/pubmed/21859473 http://dx.doi.org/10.1186/1755-8166-4-17 |
Ejemplares similares
-
A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5
por: Krgovic, Danijela, et al.
Publicado: (2014) -
Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders
por: Krgovic, Danijela, et al.
Publicado: (2018) -
Identification of genomic copy number variations associated with specific clinical features of head and neck cancer
por: Zagradišnik, Boris, et al.
Publicado: (2018) -
De Novo KMT2D Heterozygous Frameshift Deletion in a Newborn with a Congenital Heart Anomaly
por: Stangler Herodež, Š, et al.
Publicado: (2020) -
CNVs and Chromosomal Aneuploidy in Patients With Early-Onset Schizophrenia and Bipolar Disorder: Genotype-Phenotype Associations
por: Gregoric Kumperscak, Hojka, et al.
Publicado: (2021)