Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome |
| |
| Authors: | Minh-Tuan Huynh Anne-Sophie Riteau Kamran Moradkhani Olivier Pichon Sébastien Richard Madeleine Joubert Stéphane Bézieau |
| |
| Affiliation: | 3. Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy;4. Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, Naples, Italy;6. Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy;7. Department of Pediatrics, ASST Lariana Sant''Anna Hospital, San Fermo Della Battaglia, Como, Italy;8. Neuroscience Department, Giannina Gaslini Institute, Genoa, Italy;9. Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy;10. Fondazione MBBM, Monza, Italy;11. Institute of Genomic Medicine, Catholic University, Gemelli Hospital Foundation, Rome, Italy;12. Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience, Italy;13. Department, A Meyer Children''s Hospital, University of Florence, Florence, Italy;14. Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milan, Italy;15. Oasi Research Institute - IRCCS, Troina, Italy;p. Department of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children''s Hospital, Bari, Italy;q. Department of Pediatrics, AORN Santobono Pausilipon, Naples, Italy;1. Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;2. Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;3. Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy;4. Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, Naples, Italy;5. Neuroradiology Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;1. Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand;2. Division of Genetics and Metabolism, Children''s National Hospital, Rare Disease Institute, Washington, DC, 20010, USA;3. Department of Gastroenterology, Hepatology and Nutrition, Children''s National Hospital, Washington, DC, 20010, USA;4. Department of Pathology, Children''s National Hospital, Washington, DC, 20010, USA |
| |
| Abstract: | 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. |
| |
| Keywords: | Mosaicism Isochromosome i(8) (q10) Nuchal translucency 8p inverted duplication deletion |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
