|
|
| Vazquez Cantú,D.L; Gutiérrez García,V.M; Cruz-Camino,H; Lara Díaz,V.J; Garza García,K; Garduño Zarazúa,L.M; Meléndez Hernández,R; Paz Martínez,A; Mayén Molina,D.G; Cantú-Reyna,C. |
| The 18p tetrasomy is a structural chromosomal abnormality with the presence of an extra isochromosome 18p, caused by a nondisjunction failure during maternal meiosis II. This additional i(18p) occurs in 1 of 180,000 live-born children worldwide, affecting males and females equally. It is characterized by craniofacial dysmorphisms; ears, nose and throat (ENT) abnormalities; musculoskeletal alterations; and global development delay. We aim to present the clinical and cytogenetic findings of a 3-year-10-month-old Latin American male with i(18p), to support the gene dosage effects, comparing his features with the ones reported in literature. This patient was product of the second pregnancy of a 39-year-old woman and the first son of a 49-year-old man. His main... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Tetrasomy 18p; Chromosome 18; Isochromosome; Cytogenetic analysis; Case report. |
| Ano: 2018 |
URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332018000100002 |
| |
