Cargando…
A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn
We present the case of a newborn with 17q23.1q23.2 microdeletion and additional homozygosity of 11p11.2q13.4. In the literature, 17q23.1q23.2 microdeletion syndrome is a novel syndrome reported in nine patients. Our patient is a full-term baby boy admitted to a neonatal intensive care unit for hypog...
Autores principales: | Barola, Sindhu, Parrill, Allison M, Mahmoudzadeh, Samaan, Bizargity, Peyman, Verma, Rita |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9012598/ https://www.ncbi.nlm.nih.gov/pubmed/35449653 http://dx.doi.org/10.7759/cureus.23290 |
Ejemplares similares
-
Trapping MBD5 to understand 2q23.1 microdeletion syndrome
por: Kwon, Deborah Y, et al.
Publicado: (2014) -
Inherited 2q23.1 microdeletions involving the MBD5 locus
por: Tadros, Shereen, et al.
Publicado: (2017) -
Age‐Related Parkinsonian Signs in Microdeletion 22q11.2
por: Boot, Erik, et al.
Publicado: (2020) -
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions
por: Blagowidow, Natalie, et al.
Publicado: (2023) -
Neuroanatomical Phenotypes in a Mouse Model of the 22q11.2 Microdeletion
por: Ellegood, J., et al.
Publicado: (2013)