Zobrazeno 1 - 10
of 2 734
pro vyhledávání: '"Isochromosome"'
Autor:
Naoko Shigeta, Tetsuya Isaka, Kyoko Ono, Mio Tanaka, Tomoyuki Yokose, Hiroyuki Adachi, Wataru Usuba, Hiroyuki Ito
Publikováno v:
Diagnostic Pathology, Vol 19, Iss 1, Pp 1-7 (2024)
Abstract Background Chordoma, a rare malignant tumor arising from notochordal tissue, usually occurs along the spinal axis. Only a few published reports of primary lung chordomas exist. Herein, we present a case of primary lung chordoma and discuss i
Externí odkaz:
https://doaj.org/article/9da43579c02d41af910bfc1b0e03923d
Autor:
Mari Kagajo, Kyoko Moritani, Mayumi Iwamoto, Machiko Miyamoto, Tsuyoshi Imai, Motoharu Hamada, Manabu Wakamatsu, Hideki Muramatsu, Minenori Eguchi-Ishimae, Mariko Eguchi
Publikováno v:
Leukemia Research Reports, Vol 22, Iss , Pp 100476- (2024)
AMeD syndrome is characterized by aplastic anemia, mental retardation, short stature, and microcephaly and is caused by digenic mutations in the aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 5 (ADH5) genes. We have successfully performed
Externí odkaz:
https://doaj.org/article/8a4ed9971cc1441a8c1e04e4839c47ea
Publikováno v:
Balkan Journal of Medical Genetics, Vol 25, Iss 1, Pp 101-104 (2023)
Turner Syndrome (TS) is a genetic disorder caused by total or partial loss of an X chromosome. The isochromosome X (i(X)) is a known variant of TS, however, double i(X) is a very rare variant, reported very few times in the literature. We report on a
Externí odkaz:
https://doaj.org/article/0bdebe62e54e49079665cdf0b2e2eceb
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-10 (2022)
Abstract Background The mosaic forms and clinical phenotypes of fetuses with isochromosome Y are difficult to predict. Therefore, we summarized the cases of nine fetuses with isochromosome Y identified in prenatal diagnosis with a combination of mole
Externí odkaz:
https://doaj.org/article/fdd158d8c4ff41c493cdbb1e996f242e
Autor:
Cristina Blag, Margit Serban, Cristina Emilia Ursu, Cristina Popa, Adina Traila, Cristian Jinca, Ciprian Tomuleasa, Madalina Bota, Ioana Ionita, Teodora Smaranda Arghirescu
Publikováno v:
Journal of Clinical Medicine, Vol 12, Iss 23, p 7437 (2023)
A coincidental occurrence of severe haemophilia A and Turner syndrome in a female person is extremely rare (less than 10 cases published). In such challenging cases, a multidisciplinary approach based on medicine of precision with full access to gene
Externí odkaz:
https://doaj.org/article/7815357bf11b429fb4cc9f5a502e00b3
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
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 1, Pp 157-162 (2022)
Objective: We present the first case of prenatally diagnosed isochromosome 4p with whole 4q arm translocating to chromosome 9p23 and review the literature. Case Report: A 26-year-old woman underwent amniocentesis at 25 weeks of gestation because of a
Externí odkaz:
https://doaj.org/article/0a3af107303f4da28c1dede700cfd073
Publikováno v:
Clinical and Experimental Obstetrics & Gynecology, Vol 48, Iss 6, Pp 1458-1462 (2021)
Background: Premature ovarian insufficiency (POI) is defined as the onset of a menopausal state prior to 40 years of age. Of the various causes of POI, genetic abnormalities account for 10.8% of all cases, which can be categorized into either chromos
Externí odkaz:
https://doaj.org/article/06a110ee90f14eb3a4154a086a37a6d3
Autor:
Uma Thankam, Sankar Vaikom Hariharan, Santhi Sarojam, Remya Syamala, Sherrin Thomas Alex, Nandini V Ratnamma, Sujamol Jacob
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 16, Iss 11, Pp QC09-QC12 (2022)
Introduction: Primary amenorrhoea may be due to chromosomal abnormalities and identification of these abnormalities is important for counselling and management of these individuals. Aim: To identify the prevalence of chromosomal abnormalities in a c
Externí odkaz:
https://doaj.org/article/060ef32a296344c6a885057634c56016
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