| dc.creator | Alliende,M. Angélica | |
| dc.creator | Curotto,Bianca | |
| dc.creator | Guerra,Patricio | |
| dc.creator | Santa María,Lorena | |
| dc.creator | Hermosilla,Reinería | |
| dc.creator | Orphanópoulos,Doris | |
| dc.creator | Villanueva,Jorge | |
| dc.creator | Wettig,Elizabeth | |
| dc.creator | Barraza,Ximena | |
| dc.date | 2011-03-01 | |
| dc.date.accessioned | 2017-03-07T16:37:58Z | |
| dc.date.available | 2017-03-07T16:37:58Z | |
| dc.identifier | http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011000300003 | |
| dc.identifier.uri | http://repositorioslatinoamericanos.uchile.cl/handle/2250/404925 | |
| dc.description | Background: Chromosome aberrations (CA) are the main etiology of múltiple congenital malformations, recurrent abortions and intellectual disability (ID) specifically of modérate and severe degree. They accountfor 0.3 to 1% of newborns (NB) and 6 of 10,000 NB have chromosome imbalances with submicroscopic deletions or duplications smaller than 10 MB that are overlooked by conventional cytogenetic studies. Aim: To report the results of cytogenetic and molecular studies performed in patients with a congenital malformation disease or ID with or without dysmorphic features, attended in a regional hospital. Patients and Methods: One hundred and eighty patients, 27 with a clinical diagnosis ofDown syndrome, derivedfor the sus-picion of a genetic disease, were studied. A karyogram was performed in all ofthem and in 30 cases additional molecular studies, such as fluorescence in situ hybridization (FISH) orpolymerase chain reaction (PCR) were carried out. Results: Amongthe 153 patients without Down syndrome, 20 (13%) had a genetic abnormality responsible for the altered phenotype. Sixteen had a chromosome aberration (structural and numerical aberrations in 75 and 25% respectively) andfour had genetic molecular alterations. Additional studies were performed to confirm or better characterize the chromosome aberration in 13 ofthe 30 patients in whom these were requested. Conclusions: Chromosome and specific genetic molecular studies in selected cases help to characterize patients with genetic diseases. The collaboration between academic and health care facilities is crucial. | |
| dc.format | text/html | |
| dc.language | es | |
| dc.publisher | Sociedad Médica de Santiago | |
| dc.source | Revista médica de Chile v.139 n.3 2011 | |
| dc.subject | Chromosome Abnormality disorders | |
| dc.subject | Cytogenetic analysis | |
| dc.subject | Molecular genetics | |
| dc.title | Caracterización citogenético-molecular de enfermedades genéticas en el Hospital Base de Puerto Montt | |
| dc.type | Artículos de revistas | |
