| Revista: | Revista médica del Hospital General de México |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000439551 |
| ISSN: | 0185-1063 |
| Autores: | Toral López, Jaime1 González Huerta, Luz M2 Martínez Saucedo, Mirna3 Messina Baas, Olga2 Valdes, Juan Manuel2 Cuevas Covarrubias, Sergio A2 |
| Instituciones: | 1Instituto de Seguridad Social del Estado de México y Municipios, Centro Médico Ecatepec, Ecatepec, Estado de México. México 2Universidad Nacional Autónoma de México, Facultad de Medicina, Ciudad de México. México 3Hospital Infantil de México "Federico Gómez", Departamento de Genética, Ciudad de México. México |
| Año: | 2021 |
| Periodo: | Ene-Mar |
| Volumen: | 84 |
| Número: | 1 |
| Paginación: | 36-40 |
| País: | México |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Analítico, descriptivo |
| Resumen en inglés | Tetrasomy 18p is characterized by intellectual disability and systemic alterations. The aim of this study is to describe two patients with tetrasomy 18p, one of them with clinical data not previously reported. Genomic DNA was analyzed by multiplex ligation-dependent probe amplification and single nucleotide polymorphism-array. The final molecular result for each of the patients was arr (hg19) 18p11.32-p11.21 (136.226-15,157.836) × 4 dn and arr (hg19) 18p11.32-p11.21 (134,878, −15,149,748) × 4 dn. The results of both parents were normal. Both patients showed data compatible with tetrasomy 18p. However, one patient presented atopic dermatitis, café-au-lait spots, and thyroglossal cysts. This data have not been reported in patients with tetrasomy 18p before |
| Disciplinas: | Medicina |
| Palabras clave: | Genética, Pediatría, Diagnóstico, Tetrasomía 18p, Polimorfismos de nucleótido único (SNPs), Amplificación de sondas |
| Keyword: | Genetics, Pediatrics, Diagnosis, Tetrasomy 18p, Single nucleotide polymorphism (SNPs), Probes amplification |
| Texto completo: | https://www.hospitalgeneral.mx/frame_esp.php?id=86 |
