Asunto(s)
Anomalías Múltiples , Preescolar , Cromosomas Humanos Par 22 , Facies , Humanos , Masculino , Nariz/anomalías , TrisomíaRESUMEN
Cytogenetic investigations carried out on 1021 cases of Down syndrome revealed translocation in 46 cases. The most frequent was of t(14;21) and t(21;21) types. Most of the translocation DS cases (n = 31) were born to younger mothers (< 25 years), when compared to pure trisomy 21 DS cases. Parental karyotypes, family history and parental ages has helped us greatly in offering genetic counseling, prenatal diagnosis and estimating the risk for the next conception.
Asunto(s)
Adolescente , Adulto , Factores de Edad , Orden de Nacimiento , Análisis Citogenético , Síndrome de Down/epidemiología , Femenino , Heterocigoto , Humanos , India/epidemiología , Cariotipificación , Masculino , Mosaicismo/genética , Padres , Medición de Riesgo/métodos , Translocación Genética/genética , Trisomía/genéticaRESUMEN
Cytogenetic investigations carried on 1021 cases of Down syndrome revealed translocation in 46 cases. The most frequent was of t(14;21) and t(21;21) types. Most of the translocation DS cases (n = 31) were born to younger mother's (< 25 years), when compared to pure trisomy 21 DS cases. Parental karyotypes, family history and parental ages has helped us greatly in offering genetic counseling, prenatal diagnosis and estimating the risk for the next conception.