Cargando…
A case of partial trisomy 3p syndrome with rare clinical manifestations
Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of pa...
Autores principales: | Han, Dong Hoon, Chang, Ji Young, Lee, Woo In, Bae, Chong Woo |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Pediatric Society
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315620/ https://www.ncbi.nlm.nih.gov/pubmed/22474466 http://dx.doi.org/10.3345/kjp.2012.55.3.107 |
Ejemplares similares
-
Two Cases of Partial Trisomy 4p and Partial Trisomy 14q
por: Kim, Yeo-Hyang, et al.
Publicado: (2013) -
A novel immunodeficiency syndrome associated with partial trisomy 19p13
por: Seidel, Markus G, et al.
Publicado: (2014) -
An unusual combination of trisomy 21 and partial trisomy 5q.
por: Kim, C. J., et al.
Publicado: (1992) -
Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p
por: Musabi, Melab, et al.
Publicado: (2022) -
A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion
por: Kang, Jeong-Eun, et al.
Publicado: (2012)