Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features.

Autores de IIS La Fe

• 

  José María Millán Salvador

  Autor

Participantes ajenos a IIS La Fe

• Orellana C
• Martínez F
• Badía L
• Montero MR
• Andrés J
• Prieto F

Abstract

In this report we present the clinical features and molecular and cytogenetic findings in a female with partial trisomy 14q. Molecular and cytogenetic studies allowed us to determine that the extra 14q material (of paternal origin) was translocated postzygotically onto the maternal X chromosome. Consequently, only the derivative X chromosome was inactivated, although inactivation apparently did not spread over the entire chromosome 14q. This partial inactivation makes the present case unusual, giving rise to phenotypic features absent in other patients with partial trisomy 14q, typically restricted to the distal part of the chromosome.

Keywords

• dismorphic features; fluorescence in situ hybridization (FISH) translocation; trisomy 14q