Rare chromosomal complement of trisomy 21 in a boy conceived by IVF and cryopreservation.

Autores de IIS La Fe

• Ramiro De La Cruz Quiroga

  Autor

• Mónica Pilar Roselló Piera

  Autor

• 

  Francisco Martínez Castellano

  Autor

• Irene Ferrer Bolufer

  Autor

• Sandra Monfort Membrado

  Autor

• Juan Silvestre Oltra Soler

  Autor

• Carmen Orellana Alonso

  Autor

Participantes ajenos a IIS La Fe

• Hernandez MC

Abstract

This report describes a case of mosaic Down syndrome due to an unusual karyotype in a patient conceived by assisted reproductive techniques and cryopreservation. The chromosomal complement consists of two different cell lines, one predominantly trisomic with a derivative chromosome due to a Robertsonian translocation (21;21) and another carrying a ring chromosome 21. The present work analyses the different mechanisms that could have led to mosaicism.