Zobrazeno 1 - 10
of 155
pro vyhledávání: '"Tetrasomy 18p"'
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-5 (2022)
Abstract Background Tetrasomy 18p syndrome is a rare chromosomal disorder that is caused by the presence of isochromosome 18p. Most tetrasomy 18p cases are de novo cases and maternal origin of trisomy 18p is a rare condition. At present, only four ca
Externí odkaz:
https://doaj.org/article/640e9bfef4f7421fab33662731689d9a
Autor:
Wafa Slimani, Hela Ben Khelifa, Sarra Dimassi, Fatma-Zohra Chioukh, Afef Jelloul, Molka Kammoun, Hanene Hannachi, Sarra Bouslah, Nesrine Jammali, Damien Sanlaville, Ali Saad, Soumaya Mougou-Zerelli
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-7 (2019)
Abstract Background Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The aim of this study is to
Externí odkaz:
https://doaj.org/article/b1ec27df662d46e596591eb5b6669428
Autor:
Jaime Toral-López, Luz M. González-Huerta, Mirna Martínez-Saucedo, Olga M. Messina-Baas, Juan Manuel-Valdes, Sergio Cuevas-Covarrubias
Publikováno v:
Revista Médica del Hospital General de México, Vol 84, Iss 1 (2021)
Tetrasomy 18p is characterized by intellectual disability and systemic alterations. The aim of this study is to describe two patients with tetrasomy 18p, one of them with clinical data not previously reported. Genomic DNA was analyzed by multiplex li
Externí odkaz:
https://doaj.org/article/6b11398c258347d7b7208d61f8d3e523
Autor:
Małgorzata Rydzanicz, Pawel Olszewski, Darek Kedra, Hanna Davies, Natalia Filipowicz, Bozena Bruhn‐Olszewska, Marco Cavalli, Krzysztof Szczałuba, Marlena Młynek, Marcin M. Machnicki, Piotr Stawiński, Grażyna Kostrzewa, Paweł Krajewski, Dariusz Śladowski, Krystyna Chrzanowska, Jan P. Dumanski, Rafał Płoski
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
Abstract Background Phenotypically discordant monozygotic twins (PDMZTs) offer a unique opportunity to study post‐zygotic genetic variation and provide insights into the linkage between genotype and phenotype. We report a comprehensive analysis of
Externí odkaz:
https://doaj.org/article/853c2803d00245c78a246f0a79689b02
Publikováno v:
Case Reports in Women's Health, Vol 27, Iss , Pp e00236- (2020)
Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a rare chromosomal disorder that is seen in approximately 1 in every 180,000 live births. It is caused by the presence of isochromosome 18p, which is a supernumerary marker compos
Externí odkaz:
https://doaj.org/article/249510d3aecc42e8921a9a9153373b06
Publikováno v:
The Application of Clinical Genetics, Vol Volume 11, Pp 9-14 (2018)
Shahad Bawazeer,1 Maha Alshalan,2 Aziza Alkhaldi,3 Nasser AlAtwi,3 Mohammed AlBalwi,1,3,4 Abdulrahman Alswaid,2 Majid Alfadhel,1,2,4 1Developmental Medicine Department, King Abdullah International Medical Research Center, King Abdulaziz Medical City,
Externí odkaz:
https://doaj.org/article/623a20d209ab4879a7c6590016561aa6
Autor:
Chih-Ping Chen, Tsang-Ming Ko, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 56, Iss 6, Pp 836-839 (2017)
Objective: We present prenatal diagnosis of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome. Case Report: A 40-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal
Externí odkaz:
https://doaj.org/article/3c90904020b34f01906290e9f14c3c34
Publikováno v:
Chinese Medical Journal, Vol 130, Iss 6, Pp 744-746 (2017)
Externí odkaz:
https://doaj.org/article/038d1261fd1a4da083b184b8be0e9dce
Akademický článek
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Publikováno v:
Cureus
Tetrasomy 18p is a rare genetic condition characterized by a supernumerary 18p isochromosome with two copies of the p arm of chromosome 18 causing patients to have an extra chromosome. Most cases are de novo; however, a few maternally inherited cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::876f3f83c0c6cd6176a1a13cd31fec88
http://europepmc.org/articles/PMC8720037
http://europepmc.org/articles/PMC8720037