Síndrome de deleción de genes contiguos TSC2/PKD1, [artículo]
Por: Camacho Salas, Ana [Neurología]
| Ceballos Rodríguez, Rosa María [Neurología] | Llamas Velasco, Sara [Neurología] | Murcia García, Francisco José [Neurología] | Simón de las Heras, Rogelio [Neurología].
Colaborador(es): Servicio de Neurología-Neurofisiología | Servicio de Pediatría-Neonatología.
Editor: Anales de pediatría (Barcelona, Spain: 2003), 2013Descripción: 79(1):42-5.Recursos en línea: Solicitar documento Resumen: The TSC2 gene responsible for Tuberous Sclerosis, is located in chromosome 16p 13.3, adjacent to the gene for autosomal dominant polycystic kidney disease. A large deletion can involve both genes, causing the so-called TSC2/PKD1 contiguous gene syndrome (MIM#600273). It is characterized by congenital renal cysts, or their early onset in patients with tuberous sclerosis, and implies a worst prognosis in renal disease. We report the case of a five year-old boy with tuberous sclerosis, who presented with multiple large bilateral renal cysts in the neonatal period. A genetic confirmation study was later performed using the multiple ligation probe amplification (MLPA) technique.
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Formato Vancouver:
Llamas Velasco S, Camacho Salas A, Vidales Moreno C, Ceballos Rodríguez RM, Murcia García FJ, Simón de la Heras R. Síndrome de deleción de genes contiguos TSC2/PKD1 [TSC2/PKD1 contiguous gene deletion syndrome]. An Pediatr (Barc). 2013 Jul;79(1):42-5.
PMID: 23402778
Contiene 13 referencias
The TSC2 gene responsible for Tuberous Sclerosis, is located in chromosome 16p 13.3, adjacent to the gene for autosomal dominant polycystic kidney disease. A large deletion can involve both genes, causing the so-called TSC2/PKD1 contiguous gene syndrome (MIM#600273). It is characterized by congenital renal cysts, or their early onset in patients with tuberous sclerosis, and implies a worst prognosis in renal disease. We report the case of a five year-old boy with tuberous sclerosis, who presented with multiple large bilateral renal cysts in the neonatal period. A genetic confirmation study was later performed using the multiple ligation probe amplification (MLPA) technique.
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