RESUMEN
A new case of trisomy 19q13.2-->qter is described in a male child which was caused by a maternal balanced translocation (13;19)(p13;q13.2). The major clinical features detected in the patient included the following: facial dysmorphism, bilateral coloboma, narrow and hypoplastic nails, cardiac malformations (Fallot's tetralogy), genitourinary and gastrointestinal anomalies, and agenesis of the corpus callosum. A comparison with other reported cases of partial trisomy 19q is presented. A hypothesis is proposed to account for the involvement of p13 regions of different acrocentrics in some cases of familial translocations involving a chromosome 19.
Asunto(s)
Cromosomas Humanos Par 19 , Translocación Genética/genética , Trisomía/genética , Femenino , Humanos , Cariotipificación , MasculinoRESUMEN
The authors submitted 8 patients with bronchiectasis to endobronchial therapy with Aztreonam 2 gr twice a week for 4 weeks after endobronchial lavage with sodium chloride solution. They observed a definite clinical and radiological improvement and a stabilized condition of the disease was observed. No hepatic or renal toxicity was detected.