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Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics

Abstract : Fetal mosaicism for chromosomal rearrangements remains a challenge to diagnose, even in the era of whole-genome sequencing. We present here a case of fetal mosaicism for a chromosomal rearrangement explored in amniocytes and fetal muscle, consisting of a major cell population (95%) with partial monosomy 4q and a minor population (5%) with additional material replacing the 4qter deleted segment. Molecular techniques (MLPA, array-CGH) failed to assess the origin of this material. Only multicolor-FISH identified the additional segment on chromosome 4 as derived from chromosome 17. Due to the poor prognosis, the couple chose to terminate the pregnancy. Because of low-level mosaicism, chromosomal microarray analysis (CMA), now considered as first-tier prenatal genetic analysis, did not allow the identification of the minor cell line. In case of large CNVs (>5 Mb) detected by CMA, karyotyping may be considered to elucidate the mechanism of the underlying rearrangement and eliminate mosaicism.
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https://hal.archives-ouvertes.fr/hal-03215883
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Submitted on : Monday, July 12, 2021 - 2:18:38 PM
Last modification on : Wednesday, October 20, 2021 - 3:19:25 AM
Long-term archiving on: : Wednesday, October 13, 2021 - 7:05:26 PM

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Laura Mary, Philippe Loget, Sylvie Odent, Dominique Aussel, Gwenaëlle Le Bouar, et al.. Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics. Cytogenetic and Genome Research, Karger, 2021, pp.1-10. ⟨10.1159/000514592⟩. ⟨hal-03215883⟩

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