Authors : Zhao XX; Department of Gynecology and Obstetrics, Affiliate Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia, 010050, China. .; Bai LL

Subjects: Trisomy*/Trisomy*/Trisomy*/diagnosis ; Trisomy*/Trisomy*/Trisomy*/genetics ; Down Syndrome*/Down Syndrome*/Down Syndrome*/diagnosis

Source: BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2024 Jan 02; Vol. 24 (1), pp. 2. Date of Electronic Publication: 2024 Jan 02.Publisher: BioMed Central Country of Publication: England NLM ID: 100967799 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2393

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Trisomy 21-associated increases in chromosomal instability are unmasked by comparing isogenic trisomic/disomic leukocytes from people with mosaic Down syndrome.

Authors : Rafferty K; Department of Human & Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia, United States of America.; Department of Pathology, Virginia Commonwealth University, Richmond, Virginia, United States of America.

Subjects: Chromosomal Instability/Chromosomal Instability/Chromosomal Instability/*genetics ; Down Syndrome/Down Syndrome/Down Syndrome/*genetics ; Trisomy/Trisomy/Trisomy/*genetics Chromosome 21, uniparental disomy of

Source: PloS one [PLoS One] 2021 Jul 20; Vol. 16 (7), pp. e0254806. Date of Electronic Publication: 2021 Jul 20 (Print Publication: 2021).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report.

Authors : Xu HH; Prenatal Diagnosis Center, Taizhou Hospital, Wenzhou Medical University, Zhejiang, China. .; Medical Research Center, Taizhou Hospital, Wenzhou Medical University, Zhejiang, China. .

Subjects: Gene Rearrangement* ; Trisomy*; Cell-Free Nucleic Acids/Cell-Free Nucleic Acids/Cell-Free Nucleic Acids/*genetics

Source: BMC medical genomics [BMC Med Genomics] 2020 Jul 06; Vol. 13 (1), pp. 96. Date of Electronic Publication: 2020 Jul 06.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21.

Authors : Li J; Department of Laboratory Medicine, Zhongnan Hospital, Wuhan university, Wuhan, Hubei, P. R. China.; Hubei Clinical Research Center for prenatal Diagnosis and Birth Health, Wuhan, Hubei, P. R. China.

Subjects: Karyotype* ; Mosaicism*; Craniofacial Abnormalities/Craniofacial Abnormalities/Craniofacial Abnormalities/*genetics Tetrasomy X; Triple X syndrome

Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Aug; Vol. 8 (8), pp. e1279. Date of Electronic Publication: 2020 May 28.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders.

Authors : Akutsu SN; Department of Genetics and Cell Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima 734-8553, Japan.; Fujita K

Subjects: Cellular Reprogramming Techniques/Cellular Reprogramming Techniques/Cellular Reprogramming Techniques/*methods ; Chromosome Disorders/Chromosome Disorders/Chromosome Disorders/*genetics ; Chromosome Disorders/Chromosome Disorders/Chromosome Disorders/*therapy Mosaic variegated aneuploidy syndrome

Source: Cells [Cells] 2020 Jan 17; Vol. 9 (1). Date of Electronic Publication: 2020 Jan 17.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409

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Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21.

Authors : Pelleri MC; Department of Experimental, Diagnostic and Specialty Medicine (DIMES), Unit of Histology, Embryology and Applied Biology, University of Bologna, Bologna (BO), Italy.; Cicchini E

Subjects: Chromosomes, Human, Pair 21*; Down Syndrome/Down Syndrome/Down Syndrome/*genetics ; Trisomy/Trisomy/Trisomy/*geneticsDown Syndrome Critical Region

Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Aug; Vol. 7 (8), pp. e797. Date of Electronic Publication: 2019 Jun 25.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype.

Authors : Vergara-Mendez LD; Neuroscience research group (Neuros), School of Medicine and Health Sciences, Universidad del Rosario, Bogotá 111221, Colombia. .; Talero-Gutiérrez C

Subjects: Karyotyping*; Down Syndrome/Down Syndrome/Down Syndrome/*genetics ; Trisomy/Trisomy/Trisomy/*genetics

Source: Journal of genetics [J Genet] 2018 Mar; Vol. 97 (1), pp. 337-340.Publisher: Springer India in co-pulbication with Indian Academy of Sciences Country of Publication: India NLM ID: 2985113R Publication Model: Print Cited

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Middle pregnancy ultrasound screening for fetal chromosomal diseases.

Authors : Liu L; Department of Ultrasonic Medicine, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China.; Zhou P

Subjects: Aneuploidy* ; Trisomy*; Down Syndrome/Down Syndrome/Down Syndrome/*diagnostic imaging

Source: Molecular medicine reports [Mol Med Rep] 2017 Nov; Vol. 16 (5), pp. 7641-7648. Date of Electronic Publication: 2017 Sep 20.Publisher: D. A. Spandidos Country of Publication: Greece NLM ID: 101475259 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Detection of fetal trisomy and single gene disease by massively parallel sequencing of extracellular vesicle DNA in maternal plasma: a proof-of-concept validation.

Authors : Zhang W; BGI-Shenzhen, Beishan Industrial Zone, Shenzhen, 518083, China.; China National GeneBank, BGI-Shenzhen, Shenzhen, 518120, China.

Subjects: Trisomy*; DNA/DNA/DNA/*genetics ; Extracellular Vesicles/Extracellular Vesicles/Extracellular Vesicles/*genetics

Source: BMC medical genomics [BMC Med Genomics] 2019 Nov 04; Vol. 12 (1), pp. 151. Date of Electronic Publication: 2019 Nov 04.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Non-Invasive Prenatal Testing beyond Trisomies.

Authors : Suciu ID; Department of General Surgery, Floreasca Emergency Hospital, Bucharest, Romania.; Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.

Subjects: Prenatal Diagnosis/Prenatal Diagnosis/Prenatal Diagnosis/*methods ; Trisomy/Trisomy/Trisomy/*diagnosis; Counseling

Source: Journal of medicine and life [J Med Life] 2019 Jul-Sep; Vol. 12 (3), pp. 221-224.Publisher:

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