Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities

Autor: Karimzad Hagh, Javad, Liehr, Thomas, Ghaedi, Hamid, Mossalaeie, Mir Majid, Alimohammadi, Shohreh, Inanloo Hajiloo, Faegheh, Moeini, Zahra, Sarabi, Sadaf, Zare-Abdollahi, Davood

Publikováno v: International Journal of Molecular and Cellular Medicine

Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b6f5de55ed1a91e0fb95d2ae3d728709
http://europepmc.org/articles/PMC5568194

Human Chromosome Atlas [electronic resource] : Introduction to diagnostics of structural aberrations / by Claudia Behrend, Javad Karimzad Hagh, Parvin Mehdipour, Gesa Schwanitz.

Autor: Behrend, Claudia, author

Externí odkaz: Kolekce e-knih KNAV

A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy.

Autor: Farajzadeh Valilou S; Department of Medical Genetics and Sarem Cell Research Center (SCRC) Sarem Womens' Hospital Tehran Iran.; Medical Genetics Network (MeGeNe) Universal Scientific Education and Research Network (USERN) Tehran Iran., Karimzad Hagh J; Department of Medical Genetics and Sarem Cell Research Center (SCRC) Sarem Womens' Hospital Tehran Iran.; IVF Center Cuypers & Cuypers Fertility Center Heinsberger Höfe Heinsberg Germany., Salimi Asl M; Department of Medical Genetics and Sarem Cell Research Center (SCRC) Sarem Womens' Hospital Tehran Iran., Abdi Rad I; Departament of Medical Genetics School of Medicine Urmia University of Medical Sciences Urmia Iran., Edizadeh M; Biotechnology Department School of Medicine Lorestan University of Medical Sciences Khorramabad Lorestan Iran., Pooladi A; Cancer and Immunology Research Center Research Institute for Health Development Kurdistan University of Medical Sciences Sanandaj Iran.; Department of Medical Genetics Faculty of Medicine Kurdistan University of Medical Sciences Sanandaj Iran.

Publikováno v: Clinical case reports [Clin Case Rep] 2021 Aug 23; Vol. 9 (8), pp. e04520. Date of Electronic Publication: 2021 Aug 23 (Print Publication: 2021).