Cargando…
De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case
Interstitial deletions involving the chromosome band 15q22q24 are very rare and only nine cases have been previously reported. Here, we report on a 12-day-old patient with a de novo 15q22q23 interstitial deletion. He was born by elective cesarean section with a birth weight of 3,120 g at 41.3-week g...
Autores principales: | Kim, Ha-Su, Han, Jin-Yeong, Kim, Myo-Jing |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Pediatric Society
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573446/ https://www.ncbi.nlm.nih.gov/pubmed/26388897 http://dx.doi.org/10.3345/kjp.2015.58.8.313 |
Ejemplares similares
-
Heterozygous Deletion of Chromosome 15q13.3 in a Boy with Developmental Regression, Global Developmental Delay, Hypotonia, and Short Stature
por: Strauss, Allison M., et al.
Publicado: (2022) -
De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global
Developmental Delay
por: Keselman, Dennis, et al.
Publicado: (2019) -
de novo interstitial deletions at the 11q23.3-q24.2 region
por: Su, Jiasun, et al.
Publicado: (2016) -
A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects
por: Kalinauskiene, Ruta, et al.
Publicado: (2023) -
Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)
por: Lalani, Seema R, et al.
Publicado: (2006)