Výsledky vyhledávání - "Isochromosome X"

Akademický článek

A Rare Variant of Turner Syndrome (the X Isochromosome-X Syndrome): A Case Report

Autor: Hamid Reza Samimagham, Mitra Kazemi Jahromi

Publikováno v: Disease and Diagnosis, Vol 10, Iss 4, Pp 177-179 (2021)

Background: Turner syndrome occurs in nearly one in every 2000-5000 female births. This syndrome is a genetic problem in the female phenotype and the most common sex chromosome anomaly. It is diagnosed based on clinical manifestations and cytogenetic

Externí odkaz: https://doaj.org/article/57e33f6d4f214ed2a992ec395ccd447d

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Congenital Zika syndrome phenotype in a child born in Brazil in December 2011

Autor: Katia E. F. A. Coelho, Cristian M. Petter, Ivar Brandi, Alessandra L. de Carvalho, Grasiele L. C. C. Silva, Suely F. Pinho

Publikováno v: Clinical Case Reports

Key Clinical Message We report a case of a Brazilian child born in 2011 with congenital Zika syndrome phenotype. Zika virus (ZIKV) may have been circulating in Brazil more than 4 years before the outbreak. ZIKV infection might be considered in childr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e5ebc2e9fcee7ecd4401f165782cb6b
http://europepmc.org/articles/PMC6230596

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Akademický článek

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Evaluation of Karyotype Composition of Our Turner Syndrome Patients with Their Application Complaints and Anthropometric Data

Autor: Semih Bolu, Mustafa Dogan, Hüseyin Yüce, Recep Eröz

Publikováno v: Volume: 10, Issue: 2 248-252
Konuralp Medical Journal

Turnersendromu (TS), kadınlarda ikinci X kromozomunun kısmi veya tam kaybı ya da Xkromozomunun yapısal anomalileri sonucu oluşan ve boy kısalığı, lenfödem,kardiyak anomaliler, primer over yetmezliği ve nörokognitif problemler gibiklinik b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ca069d9616833b4b960c39a30462d1
https://dergipark.org.tr/tr/pub/ktd/issue/38827/414179

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Identification of i(X)(p10) as the sole molecular abnormality in atypical chronic myeloid leukemia evolved into acute myeloid leukemia

Autor: Luca Franceschini, Emiliano Fabiani, Eleonora De Bellis, Carmelo Gurnari, Vito Mario Rapisarda, Manuela Rizzo, Maria Teresa Voso, Francesco Lo Coco, Diana Postorivo, Paola Panetta, Anna Maria Nardone, Giulia Falconi

The World Health Organization classifies atypical chronic myeloid leukemia (aCML) as a myeloproliferative/myelodisplastic hematological disorder. The primary manifestations are leukocytosis with disgranulopoiesis, absence of basophilia and/or monocyt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afb00775aa6434f9be82c71fe0a44110
https://europepmc.org/articles/PMC5791424/

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Rare Types of Turner Syndrome: Clinical Presentation and Cytogenetics in Five Cases

Autor: Gülen Aslan Uyaniker, Umut Kutlu Dilek, Zuhal Mert Altintas, Etem Akbaş, Sevim Karakas Celik, Ali Delibaş, Badel Aslan Mamur, Samim Özen

Publikováno v: Laboratory Medicine. 43:197-204

Turner Syndrome occurs in one out of every 5000 live female births and the diagnosis is usually based on the clinical presentation. In the last 9 years, 17 of 1681 patients who underwent cytogenetic evaluation to investigate uncertain chromosomal ano

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d2d69e89c23310e9276e7e1c4abb2ff
https://doi.org/10.1309/lmezqxk85cdp4hyn

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Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association

Autor: Kalpana Gowrishankar, Thiruvengadam Vasanthi, T. Jayasudha, R. Ashok Kumar, Jeevan M Kumar

Publikováno v: Indian Journal of Human Genetics

Isochromosome is a structurally unbalanced chromosome consisting of two short arms or two long arms, which are derived by abnormal centromere division or sister-chromatid exchange. Most autosomal isochromosomes are unusual, while those involving sex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00e2432718f5be966d394257ff6766c3
http://europepmc.org/articles/PMC3276999

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Akademický článek

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47,X,i(Xq),Y KARYOTİPİ SAPTANAN BİR KLİNEFELTER SENDROMU OLGUSU

Autor: PEHLİVAN, Davut, ÇEFLE, Kıvanç, ÖZTÜRK, Şükrü, AKBULUT, Fatih Mehmet, PALANDUZ, Şükrü

Publikováno v: Volume: 71, Issue: 3 91-93
Journal of Istanbul Faculty of Medicine

Klinefelter syndrome, the first described chromosomal abnormality, is characterized with hypergonadotrophic hypogonadism and eunochoid body habitus. Its prevelance is one in 500-1000 live birth. Patients usually diagnosed while they are evaluated for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=tubitakulakb::b53b0d510425d62ee39126d2cb0b47cd
https://dergipark.org.tr/tr/pub/iuitfd/issue/9273/115957

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X i?zokromozomuna sahip Turner Sendrom'lu bir olgu sunumu

Autor: Güven A., Koçak Ş., Aydin M., Ökten G., Oğur G.

Classic Turner's Syndrome which has severe findings is the most common cytogenetic type of Turner's Syndrome. i(Xq) isochromosome is also a common cytogenetic abnormality and cases have generally milder clinics than classic Turner's Syndrome. In this

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______9773::60a639baa53fb030b6facf58ac8a1acc
https://hdl.handle.net/20.500.12712/3381

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