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

Laura Mary | Zendy; Philippe Loget | Zendy; Sylvie Odent | Zendy; Dominique Aussel | Zendy; G. Le Bouar | Zendy; Erika Launay | Zendy; Cathérine Henry | Zendy; MarcAntoine BelaudRotureau | Zendy; Sylvie Jaillard | Zendy

Open Access

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

Author(s) -

Laura Mary,

Philippe Loget,

Sylvie Odent,

Dominique Aussel,

G. Le Bouar,

Erika Launay,

Cathérine Henry,

MarcAntoine BelaudRotureau,

Sylvie Jaillard

Publication year - 2021

Publication title -

cytogenetic and genome research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.571

H-Index - 88

ISSN - 1424-8581

DOI - 10.1159/000514592

Subject(s) - biology , multiplex ligation dependent probe amplification , monosomy , chromosomal rearrangement , molecular cytogenetics , karyotype , genetics , cytogenetics , fluorescence in situ hybridization , prenatal diagnosis , population , chromosome , fetus , gene , pregnancy , medicine , environmental health , exon

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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