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

Reprod Biomed Online. 2009 Sep;19(3):415-7. doi: 10.1016/s1472-6483(10)60177-0.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 21*
  • Cryopreservation*
  • Down Syndrome / diagnosis*
  • Down Syndrome / etiology
  • Down Syndrome / genetics
  • Embryo, Mammalian*
  • Fertilization / physiology
  • Fertilization in Vitro* / adverse effects
  • Humans
  • Male
  • Mosaicism
  • Ring Chromosomes
  • Translocation, Genetic* / genetics