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Case report: Rare chromosomal complement of trisomy 21 in a boy conceived by IVF and cryopreservation
Reproductive BioMedicine Online, 09/25/09

Quiroga R et al. – The 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.

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