Prevalencia al nacimiento de aberraciones cromosómicas en el Hospital Clínico de la Universidad de Chile. Período 1990-2001 / Prevalence of chromosomal aberrations at birth in the Clinical Hospital of Universidad de Chile, 1990-2001
Rev. méd. Chile
;
131(6): 651-658, jun. 2003.
Artículo
en Español
| LILACS
| ID: lil-356090
RESUMO
BACKGROUND:
A cytogenetical study should be performed to every newborn with malformations. If a chromosomal aberration is found, parents must be studied to give an adequate genetic advise.AIM:
To study the frequency of chromosomal aberrations in newborns with malformations. PATIENTS ANDMETHODS:
In the Clinical Hospital of the University of Chile all malformations in newborns are registered, as part of the Collaborative Latin American Study of Congenital Malformations (ECLAMC). The frequency of chromosomal aberrations, determined by cytogenetical studies, was determined in newborns with malformations.RESULTS:
In the study period, there were 32,214 births. Of these, 2,268 live newborns and 43 stillbirths had malformations. Ninety nine children with malformations had chromosomal aberrations (4.3 per cent). Trisomy 21 was the most common aberration with a rate of 23/10,000 births, followed by trisomy 18 with a rate of 4/10,000 and trisomy 18 with a rate of 1.2/10,000. Ninety four percent of these children were born alive and 16.1 per cent died before discharge from the hospital. The masculinity indexes for Down syndrome and for trisomy 18 were 0.38 and 0.61 respectively.CONCLUSIONS:
A higher frequency of female gender for trisomy 21 and male gender for trisomy 18 has not been reported previously.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Anomalías Congénitas
/
Aberraciones Cromosómicas
Tipo de estudio:
Estudio de etiología
/
Estudio observacional
/
Estudio de prevalencia
/
Factores de riesgo
/
Estudio de tamizaje
Límite:
Femenino
/
Humanos
/
Masculino
/
Recién Nacido
País/Región como asunto:
America del Sur
/
Chile
Idioma:
Español
Revista:
Rev. méd. Chile
Asunto de la revista:
Medicina
Año:
2003
Tipo del documento:
Artículo
País de afiliación:
Chile
Institución/País de afiliación:
Universidad de Chile/CL
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