RESUMEN
Partial Trisomy 9q is a unique chromosomal anomaly with a distinctive phenotype. Only 5 cases have been reported in the literature till now. A large family with four affected children was studied in detail and was compared with the five previously reported cases. Determination of this novel balanced translocation in their family had helped us to offer prenatal diagnosis. This presentation is unique as even though partial trisomy 9q has been reported earlier with 9/17 translocations, our family is the first to have a translocation between q arms of chromosomes 9 and 17.
Asunto(s)
Cromosomas Humanos Par 17/genética , Cromosomas Humanos Par 9/genética , Humanos , Recién Nacido , Cariotipificación , Masculino , Linaje , Fenotipo , Translocación Genética , Trisomía/genéticaRESUMEN
A total of 26,237 deliveries were monitored for twinning and malformations at the 4 government hospitals catering to the population of Kollam and Alapuzha-districts of South Kerala. Among these 7.8 per thousand were twin births showing an increase in the incidence with maternal age. The twin births were high among children of consanguineous marriages (11.7 per thousand) as compared to non-consanguineous marriages (7.7 per thousand). Still births and malformations were also higher in twin deliveries as against singleton deliveries. A large data base is being built to establish a twin registry.