RESUMEN
In this report we present a method to determine sex chromosomal aneuploidies by duplex polymerase chain reaction with sufficient precision to distinguish between one, two and more copies of X and Y sequences. We coamplified an autosomal gene segment (exon 33 of neurofibromatosis type I gene on chromosome 17) as an internal standard for our sequence of interest (AMXY) on X and Y chromosomes. By using this standard as a reference for two gene copies we could visually estimate the relative gene dosage for the X-, and Y-specific AMXY sequences in the DNA sample under consideration. We have evaluated this method in normal males and females and in patients with known sex chromosomal aneuploidies and have found it to be a reliable and quick tool for detection of numerical sex chromosomal abnormalities.
Asunto(s)
Aneuploidia , Secuencia de Bases , Femenino , Humanos , Masculino , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa , Aberraciones Cromosómicas Sexuales/genética , Factores de TiempoRESUMEN
Clinical and pathological features in 23 children who developed acute renal failure from what was subsequently proven to be diethylene glycol poisoning are presented. Symptoms of cases included anuria; fever; diarrhoea and vomiting. Eighteen (78.3) had hepatomegaly; 11(47.8) had evidence of respiratory distress and 7 (30.4) had acidotic breathing. Seven (30.4) of the children were dehydrated on physical examination. Alteration in the level of consciousness was observed in 13 (56.5) children. The major biochemical abnormalities were acidosis and elevated blood urea nitrogen. Although serum bilirubin was normal in those in whom it was determined; the liver enzymes were elevated in the 2 patients in whom they were determined