International Journal of
Genetics and Molecular Biology

  • Abbreviation: Int. J. Genet. Mol. Biol.
  • Language: English
  • ISSN: 2006-9863
  • DOI: 10.5897/IJGMB
  • Start Year: 2009
  • Published Articles: 131

Full Length Research Paper

Healthy carrier parents in partial 7 and 9 chromosome trisomy in two pediatric patients: Report cases at the Hospital para el Niño Poblano, Mexico

  J. M. Aparicio-Rodríguez1,9*, M. L. Hurtado-Hernández2,8, M. Barrientos-Perez3, S. I. Assia-Robles4, N. C. Gil-Orduña5,9, R. Zamudio-Meneses6, J. S. Rodríguez-Peralta7, S. M. Brieke-Walter5, F. Almanza-Flores4 and C. Silva-Xilotl8
  1Department of Genétics, Hospital para el Nino Poblano, Mexico. 2Department of Cytogenetics, Hospital para el Nino Poblano, Mexico. 3Department of Endocrinology, Hospital para el Nino Poblano, Mexico. 4Department of Pediatrics, Hospital para el Nino Poblano, Mexico. 5Department of Estomatology, Hospital para el Nino Poblano, Mexico. 6Department of Cardiology, Hospital para el Nino Poblano, Mexico. 7Department of Neurosurgery,  Hospital para el Nino Poblano, Mexico. 8Department of Perinatology, Hospital de la Mujer S.S.A. Puebla, Mexico. 9Department of Estomatology, Benemérita Universidad Autónoma de Puebla, Mexico.
Email: [email protected]

  •  Accepted: 19 August 2010
  •  Published: 30 August 2010

Abstract

 

Two pediatric cases are reported in this study, a one year and five months old male patient with partial trisomy for the long arm of chromosome 9 due to chromosome segregation error in the father 46 XY, del (9q-)/46 XY dup (10q+), and a seven years old male patient with partial trisomy for the long arm of chromosome 7 due to chromosome segregation error in the mother 46 XX, ins (10; 7) (q21; q23q35) are described. The major abnormalities in both cases are reported and compared, where both syndromes have defects including central nervous system disorders as mental retardation, hypotonia, craniofacial anomalies, micrognatia, poor feeding and xyphoescoliosis.

 

Key words: Central nervous system, partial trisomy, translocation, chromosome, healthy carriers.