| dc.creator | Muñoz C,Sebastián | |
| dc.creator | Garay G,Francisco | |
| dc.creator | Flores C,Ingrid | |
| dc.creator | Heusser R,Felipe | |
| dc.creator | Talesnik G,Eduardo | |
| dc.creator | Aracena A,Mariana | |
| dc.creator | Mellado S,Cecilia | |
| dc.creator | Méndez R,Cecilia | |
| dc.creator | Arnaiz G,Pilar | |
| dc.creator | Repetto L,Gabriela | |
| dc.date | 2001-05-01 | |
| dc.date.accessioned | 2017-03-07T15:33:07Z | |
| dc.date.available | 2017-03-07T15:33:07Z | |
| dc.identifier | http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872001000500007 | |
| dc.identifier.uri | http://repositorioslatinoamericanos.uchile.cl/handle/2250/387066 | |
| dc.description | Background: DiGeorge anomaly, velocardiofacial syndrome and conotruncal anomaly face syndrome are part of a group of congenital malformations of the chromosome 22q11 microdeletion syndrome, since they share certain phenotypic features as well as a common genetic abnormality. The malformations include mild facial dysmorphic features, conotruncal heart defects, thymic and parathyroid hypoplasia or aplasia and cleft palate. Aim: To describe the initial clinical presentation of children with clinical and molecular diagnosis of 22q11 microdeletion. Patients and methods: Ten children (seven male) with the phenotypic features of 22q11 microdeletion syndrome are reported. Microdeletion was detected in peripheral Iymphocytes by fluorescent in situ hybridisation (FISH) with the TUPLE-1 DNA probe. Results: Two children had abnormal karyotypes, one of them had a visible deletion and another child had an unbalanced translocation inherited from his mother who had a balanced translocation between chromosomes 14 and 22. Two of the 10 patients had an anterior laryngeal web, a malformation infrequently described in this syndrome. Five patients had the diagnosis of DiGeorge anomaly, had a more serious clinical presentation and a higher early mortality. Conclusions: The high frequency of the 22q11 microdeletion syndrome, estimated at 1:5.000 newborns, and its variable presentations requires a high level of awareness for its early diagnosis and appropriate management of associated complications. (Rev Méd Chile 2001; 129: 515-21) | |
| dc.format | text/html | |
| dc.language | es | |
| dc.publisher | Sociedad Médica de Santiago | |
| dc.source | Revista médica de Chile v.129 n.5 2001 | |
| dc.subject | Ahnormalities | |
| dc.subject | Chromosome abnormalities | |
| dc.subject | Chromosome deletion | |
| dc.subject | DiGeorge syndrome | |
| dc.title | Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22, región q11 | |
| dc.type | Artículos de revistas | |
