X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

Autores de IIS La Fe

• 

  Francisco Martínez Castellano

  Autor

• Iker Fernandez Navamuel

  Autor

Participantes ajenos a IIS La Fe

• Madrigal I
• Rodríguez-Revenga L
• Armengol L
• González E
• Rodriguez B
• Badenas C
• Sánchez A
• Guitart M
• Arranz JA
• Tejada M
• Pérez-Jurado LA
• Estivill X
• Milà M

Abstract

Aproximately 5-10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to uncover cryptic rearrangements in X-linked mental retardation (XLMR) patients. We have constructed an X-chromosome tiling path array using bacterial artificial chromosomes (BACs) and validated it using samples with cytogenetically defined copy number changes. We have studied 54 patients with idiopathic mental retardation and 20 controls subjects.