Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient

Marquet, Valentine; Bourgeois, Dominique; Mas, P. De; Bouneau, Laurence; Vigouroux-Castera, Adeline; Molignier, Romain; Calvas, Patrick

doi:10.1002/ccr3.313

Cited by 4 publications

(2 citation statements)

References 21 publications

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“…Also, previous reports showed that individuals with 21q deletion can be infertile, presenting azoospermia or irregular menstrual cycles (Marquet et al ). The present patient has no history of other reproductive disorders or neoplasias until now, but she developed a severe polymenorrhea, which has lead to hysterectomy.…”

mentioning

confidence: 96%

Pure 21q22.3 deletion identified in a patient with mild phenotypic features

Sgardioli

Copelli

Lustosa-Mendes

et al. 2018

Congenital Anomalies

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mentioning

confidence: 96%

Pure 21q22.3 deletion identified in a patient with mild phenotypic features

Sgardioli

Copelli

Lustosa-Mendes

et al. 2018

Congenital Anomalies

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“…Chromosomal abnormalities, including aneuploidies, deletions, microdeletions of the AZF region of the Y chromosome, duplications, small supernumerary marker chromosomes, translocations, insertions, and inversions, may be the underlying cause of the failure to complete meiosis45678910111213141516. Such chromosomal aberrations have been shown to affect meiotic synapsis and chromosome pairing17, resulting in both infertility and spontaneous abortions.…”

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confidence: 99%

Induced pluripotent stem cell generation from a man carrying a complex chromosomal rearrangement as a genetic model for infertility studies

Mouka

Izard

Tachdjian

et al. 2017

Sci Rep

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Despite progress in human reproductive biology, the cause of male infertility often remains unknown, due to the lack of appropriate and convenient in vitro models of meiosis. Induced pluripotent stem cells (iPSCs) derived from the cells of infertile patients could provide a gold standard model for generating primordial germ cells and studying their development and the process of spermatogenesis. We report the characterization of a complex chromosomal rearrangement (CCR) in an azoospermic patient, and the successful generation of specific-iPSCs from PBMC-derived erythroblasts. The CCR was characterized by karyotype, fluorescence in situ hybridization and oligonucleotide-based array-comparative genomic hybridization. The CCR included five breakpoints and was caused by the inverted insertion of a chromosome 12 segment into the short arm of one chromosome 7 and a pericentric inversion of the structurally rearranged chromosome 12. Gene mapping of the breakpoints led to the identification of a candidate gene, SYCP3. Erythroblasts from the patient were reprogrammed with Sendai virus vectors to generate iPSCs. We assessed iPSC pluripotency by RT-PCR, immunofluorescence staining and teratoma induction. The generation of specific-iPSCs from patients with a CCR provides a valuable in vitro genetic model for studying the mechanisms by which chromosomal abnormalities alter meiosis and germ cell development.

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2019

Diagnostic Molecular Biology

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Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient

Cited by 4 publications

References 21 publications

Pure 21q22.3 deletion identified in a patient with mild phenotypic features

Pure 21q22.3 deletion identified in a patient with mild phenotypic features

Induced pluripotent stem cell generation from a man carrying a complex chromosomal rearrangement as a genetic model for infertility studies

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