Cargando…
Fetal Cystic Hygroma Associated with Terminal 2p25.1 Duplication and Terminal 3p25.3 Deletion: Cytogenetic, Fluorescent in Situ Hybridization and Microarray Familial Characterization of Two Different Chromosomal Structural Rearrangements
We report a prenatally diagnosed case of partial trisomy 2p and partial monosomy 3p, resulting from unbalanced translocation (2;3)(p25.1;p25.3) of paternal origin. Parents were non consanguineous Caucasians, with familial history of recurrent miscarriages on the father’s side. Detailed sonographic e...
Autores principales: | Stipoljev, F, Barbalic, M, Logara, M, Vicic, A, Vulic, M, Zekic Tomas, S, Gjergja Juraski, R |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sciendo
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8009571/ https://www.ncbi.nlm.nih.gov/pubmed/33816076 http://dx.doi.org/10.2478/bjmg-2020-0023 |
Ejemplares similares
-
6q25.1-q25.3 Microdeletion in a Chinese Girl
por: Zhong, Mian-Ling, et al.
Publicado: (2021) -
Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype–phenotype correlations
por: Zhang, Liyu, et al.
Publicado: (2023) -
A Japanese patient with a 2p25.3 terminal deletion presented with early‐onset obesity, intellectual disability and diabetes mellitus: A case report
por: Sakaue, Taka‐aki, et al.
Publicado: (2021) -
A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder
por: Bonaglia, Maria Clara, et al.
Publicado: (2014) -
Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family
por: Qi, Zhongxia, et al.
Publicado: (2015)