Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome

• Published in: European journal of medical genetics Vol. 64; no. 1; p. 104118
• Main Authors: Huynh, Minh-Tuan, Riteau, Anne-Sophie, Moradkhani, Kamran, Pichon, Olivier, Richard, Sébastien, Joubert, Madeleine, Bézieau, Stéphane
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01.01.2021
• Subjects: 8p inverted duplication deletion; Isochromosome i (q10); Mosaicism; Nuchal translucency; Isochromosome i (q10); Nuchal translucency; Mosaicism; 8p inverted duplication deletion
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2020.104118

We described a new second case of fetoplacental discrepancy involving first trimester prenatal detection of mosaic isochromosome i (8) (q10). A 32-year-old woman underwent chorionic villous sampling because of increased fetal nuchal translucency. Analysis of direct chromosome preparations was performed by R-banding and FISH using subtelomeric, centromeric and whole chromosome painting probes for chromosome 8 showing the presence of an isochromosome 8q with a complex, female mosaic karyotype: mos 46,XX,i (8) (q10)[13]/46,XX,del (8) (p23)[10]. Cytogenetic analysis of cultured CVS showed an interstitial duplication with concomitant terminal deletion of the short arm of chromosome 8: 46,XX,der (8)del (8) (p23)dup (8) (p?)[18]. Array-CGH analysis from cultured trophoblasts and fetal tissues revealed a 6.69 Mb terminal deletion in 8p23.3p23.1 associated with a 31.49 Mb duplication in 8p23.1p11.1. FISH analysis confirmed the 8p inverted duplication deletion syndrome. Moreover, polymorphic DNA marker analysis demonstrated that the derivative chromosome 8 was of maternal origin. FISH analysis of cultured peripheral blood lymphocytes showed that the mother also carried a cryptic paracentric inversion inv (8) (p23). Our report contributes to expand the fetal phenotype of 8p inverted duplication deletion syndrome and also provides further insight into the underlying mechanism of this rare genomic disorder.