Cargando…
Terminal 6q27 Microdeletion Syndrome: A Case Report
A 10-year-old female with a history of global developmental delay (reduced concentration, cognitive impairment, and difficulty in reading and writing), scoliosis, aggressiveness, toe walking, and brain malformations was observed in the pediatric development outpatient consultation of Hospital de San...
Autores principales: | Ferreira Vieira, Maycoll, Carvalho, Daniela, Valentim, Filipa, Branco, Diogo M, Marinho, Helena Martinha |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9720043/ https://www.ncbi.nlm.nih.gov/pubmed/36475138 http://dx.doi.org/10.7759/cureus.31037 |
Ejemplares similares
-
Isolated Chromosome 6q27 Terminal Deletion Syndrome
por: Bhatta, Sabita, et al.
Publicado: (2020) -
Intellectual Disability in Two Brothers Caused by De Novo Novel Unbalanced Translocation (13;18) (q34,q23) and De Novo Microdeletion 6q25 Syndrome
por: Alhashem, Amal M, et al.
Publicado: (2020) -
A Rare Case of 15q11.2 Microdeletion Syndrome with Atypical Features: Diagnostic Dilemma
por: Chowdhury, Waliul, et al.
Publicado: (2018) -
17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review
por: Isa, Hasan M, et al.
Publicado: (2022) -
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity
por: Roberti, Domenico, et al.
Publicado: (2018)