منابع مشابه
Denys-Drash syndrome.
In 1967, Denys et al. described the triad of ambiguous genitalia, nephrotic syndrome and Wilms' tumor in an XX/ XY mosaic(l). Three years later, Drash et al. described the triad in two patients and suggested that it may be a syndrome(2). Since then the syndrome has come to be known as the Drash syndrome or, more appropriately, as the Denys-Drash syndrome. More than 60 patients with this syndrom...
متن کاملThe Denys-Drash syndrome.
sent with normal male external genitalia, the vast majority will appear phenotypically female or have ambiguous genitalia (table 1). The majority of cases of the Denys-Drash syndrome with any one of these three phenotypes of their external genitalia will have a normal male karyotype. The relative paucity of cases with a female karyotype may be because of underdiagnosis of the syndrome in phenot...
متن کاملInherited WT1 mutation in Denys-Drash syndrome.
Patients with the Denys-Drash syndrome (Wilms' tumor, genital anomalies, and nephropathy) have been demonstrated to carry de novo constitutional mutations in WT1, the Wilms' tumor gene at chromosome 11p13. We report three new cases, two carrying a previously described WT1 exon 9 mutation and one with a novel WT1 exon 8 mutation. However, unlike patients in previous reports, one of our three pat...
متن کامل[Denys-Drash syndrome: a case report].
Nephrotic syndrome (NS) rarely develops before the age of 1 year. The case is presented of nephrotic syndrome occurring in the form of Denys-Drash syndrome. In a newborn of female sex in birth certificate, dysmorphia was found of the external urogenital organs. The karyotype was 46XY. Massive proteinuria, low total serum protein level, dysproteinaemia, hypercholesterolaemia justified the diagno...
متن کاملTrr 1968
variable following an identical probability distribution as the arrival process. A new estimation method of the average travel time uses a crosscorrelation analysis of traffic flow measurement data. This method requires only traffic flow information, which is available from the measurements of single loop detectors upstream and downstream from one link. Different from the existing maximum cross...
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ژورنال
عنوان ژورنال: Études françaises
سال: 1968
ISSN: 0014-2085,1492-1405
DOI: 10.7202/036348ar