Zobrazeno 1 - 10
of 186
pro vyhledávání: '"microduplications"'
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 5, Pp 764-767 (2024)
Objective: To help determine the pathogenicity of 4p16.1 microduplications, we reported two asymptomatic families carrying this variation. Case report: We present the prenatal diagnosis and genetic analysis of two normal families with 4p16.1 microdup
Externí odkaz:
https://doaj.org/article/95156a5683234569952a90841a73d156
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-5 (2022)
Abstract Background Patients with deletions involving the long arm of chromosome 1 are rare. The PBX1 gene is located on chromosome 1q23.3. PBX1 encodes a transcription factor which promotes protein–protein interaction and plays a crucial role in s
Externí odkaz:
https://doaj.org/article/0da51e563da44a0cb529a7b2f98a1205
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
ObjectiveChromosomal 1q21.1 deletions and duplications are genomic disorders that are usually diagnosed postnatally. However, the genotype–phenotype correlations of 1q21.1 copy number variants (CNVs) during the prenatal period are still not clear.
Externí odkaz:
https://doaj.org/article/b001d3e5e19042bdaf19e8e2078ad9a4
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-5 (2022)
Abstract Background Unbalanced chromosome abnormalities (UBCA) are either gains or losses or large genomic regions, but the affected person is not or only minimally clinically affected. Copy number variants (CNVs) are an important source of normal an
Externí odkaz:
https://doaj.org/article/cf012a078de24b50baaee818c4d907c1
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 4, Pp 717-721 (2022)
Objective: To report three families with chromosome 15q11q13 duplications. Case report: We report the prenatal diagnosis and genetic counseling of three 15q11q13 duplications. Conclusion: Chromosomal microdeletions and microduplications are difficult
Externí odkaz:
https://doaj.org/article/80180f8e2adf4044bd7eb9e0c3a5e181
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-4 (2022)
Abstract Background Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion has been previously associated with developmental delay, mental retardation, epilepsy,
Externí odkaz:
https://doaj.org/article/a666153a5d6f446d9fdbbf384a7130f6
Akademický článek
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Autor:
Hua Hu, Li Wang, Jiayan Wu, Peng Zhou, Jingli Fu, Jiuchen Sun, Weiyi Cai, Hailiang Liu, Ying Yang
Publikováno v:
Human Genomics, Vol 13, Iss 1, Pp 1-9 (2019)
Abstract Background Noninvasive prenatal testing (NIPT) for fetal aneuploidies by scanning cell-free fetal DNA in maternal plasma is rapidly becoming a first-tier aneuploidy screening test in clinical practices. With the development of whole-genome s
Externí odkaz:
https://doaj.org/article/da7832e1a2a34c66bd6be7b6c0ea4d28
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background The aim of this study was to evaluate the application of BACs‐on‐Beads (BoBs™) assay for rapid detection of chromosomal abnormalities for prenatal diagnosis (PND). Methods A total of 1520 samples, including seven chorionic v
Externí odkaz:
https://doaj.org/article/0aed83d62e7540b2ad4b7bc14ccd462f
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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