Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases.

Autor: Vitetta G; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Desiderio L; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Baccolini I; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Uliana V; Medical Genetics Unit, University Hospital of Parma, Parma, Italy., Lanzoni G; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Ghi T; Obstetrics & Gynecology, Department of Medicine and Surgery, University of Parma, Parma, Italy., Pilu G; Obstetric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Ambrosini E; Medical Genetics Unit, University Hospital of Parma, Parma, Italy., Caggiati P; Medical Genetics Unit, University Hospital of Parma, Parma, Italy., Barili V; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy., Trotta AC; TOMA Advanced Biomedical Assays S.p.A, Busto Arsizio, Varese, Italy., Liuti MR; TOMA Advanced Biomedical Assays S.p.A, Busto Arsizio, Varese, Italy., Malpezzi E; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Pittalis MC; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy. mariacarla.pittalis@aosp.bo.it., Percesepe A; Medical Genetics Unit, University Hospital of Parma, Parma, Italy.; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy.

Publikováno v: Molecular cytogenetics [Mol Cytogenet] 2024 Apr 08; Vol. 17 (1), pp. 8. Date of Electronic Publication: 2024 Apr 08.

Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements.

Autor: Pittalis MC; Cytogenetic Laboratory, Unit of Obstetrics and Gynecology, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy., Mattarozzi A, Menozzi C, Malacarne M, Baccolini I, Farina A, Pompilii E, Magini P, Percesepe A

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Oct; Vol. 161A (10), pp. 2559-63. Date of Electronic Publication: 2013 Aug 06.

Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies.

Autor: Basaran, Seher, Has, Recep, Kalelioglu, Ibrahim Halil, Sarac Sivrikoz, Tugba, Karaman, Birsen, Kirgiz, Melike, Dehgan, Tahir, Kalayci, Tugba, Ozsait Selcuk, Bilge, Miny, Peter, Yuksel, Atil

Publikováno v: Genes; Dec2022, Vol. 13 Issue 12, p2389, 11p

False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review.

Autor: Van Opstal, Diane¹ a.vanopstal@erasmusmc.nl, Srebniak, Malgorzata I.¹, Polak, Joke¹, de Vries, Femke¹, Govaerts, Lutgarde C. P.¹, Joosten, Marieke¹, Go, Attie T. J. I.², Knapen, Maarten F. C. M.^2,3, van den Berg, Cardi¹, Diderich, Karin E. M.¹, Galjaard, Robert-Jan H.¹

Publikováno v: PLoS ONE. 1/15/2016, Vol. 11 Issue 1, p1-10. 10p.

The mechanisms and clinical application of mosaicism in preimplantation embryos.

Autor: Li, Xinyuan, Hao, Yan, Elshewy, Nagwa, Zhu, Xiaoqian, Zhang, Zhiguo, Zhou, Ping

Publikováno v: Journal of Assisted Reproduction & Genetics; Mar2020, Vol. 37 Issue 3, p497-508, 12p