Characterization of two children with tetrasomy 18p syndrome through multiplex ligation-dependent probe amplification and single nucleotide polymorphism-array: expanding phenotype?
Título del documento: Characterization of two children with tetrasomy 18p syndrome through multiplex ligation-dependent probe amplification and single nucleotide polymorphism-array: expanding phenotype?
Revista: Revista médica del Hospital General de México
Base de datos: PERIÓDICA
Número de sistema: 000439551
ISSN: 0185-1063
Autors: 1
2
3
2
2
2
Institucions: 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
Any:
Període: Ene-Mar
Volum: 84
Número: 1
Paginació: 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
Disciplines Medicina
Paraules clau: 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
Text complet: https://www.hospitalgeneral.mx/frame_esp.php?id=86