A rare coincidence of Turner syndrome and bronchiectasis: A case report
Clinical Case Reports, 2022 Similar to bronchiectasis, Turner syndrome is possible to have more pathological manifestations or etiologies than what has already been documented.
Mohammad Bader Almoshantaf +6 more
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Reproductive Issues in Women with Turner Syndrome [PDF]
, 2015 Turner syndrome is one of the most common chromosomal abnormalities affecting female infants. The severity of clinical manifestations varies and it affects multiple organ systems.
Folsom, Lisal J., Fuqua, John S.
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Turner Syndrome: Phenotypic Variability of Chromosomal Polymorphism
Zdorovʹe Rebenka, 2015 Turner syndrome was firstly described by N. Shereshevskyi in 1925, and then by H. Turner in 1938. In 1959, Ch. Ford found that in patients with this syndrome one X chromosome is absent.
M.O. Ryznychuk, V.P. Pishak
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A prevalência do polimorfismo A1298C e não do C677T do gene MTHFR está relacionada à ocorrência de aneuploidias cromossômicas em mulheres brasileiras portadoras da síndrome de Turner [PDF]
, 2008 BACKGROUND: Dysfunctions in the folate metabolism can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of this enzyme (C677T and A1298C) reduce its activity, but when associated with aneuploidy studies the ...
Barbosa, Caio P. +7 more
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A Case of Prenatal Diagnosis of Turner Syndrome with Ultrasonography
Andalas Obstetrics and Gynecology Journal, 2021 Objective: To report a case of Turner syndrome diagnosed in prenatal care. Method: A case report. Case: Case of Mrs. Y 26-year-old woman G2P1A0L1 diagnosed on 19-20 weeks of gestation with Turner syndrome.
Yusrawati Yusrawati, Dona Mirsa Putri
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Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome
Human Reproduction, 2016 Bruno Donadille +2 more
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Psychological and Behavioral Characteristics of Chromosomal Anomalies and Congenital Contiguous Gene Syndrome [PDF]
, 2015 Congenital anomalies exert significant impact on individuals and their families, with particularly negative effects on their quality of life. However, studies focusing on the psychological and behavioral characteristics of children with congenital ...
Diez, Higa Midory +3 more
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Orphanet Journal of Rare Diseases, 2019 BackgroundKnowledge on the prevalence of sex chromosome abnormalities (SCAs) is limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. We aimed to investigate change over time in incidence, prevalence and age at diagnosis among
A. Berglund +5 more
semanticscholar +1 more source
Parsonage-Turner Syndrome [PDF]
HSS Journal®: The Musculoskeletal Journal of Hospital for Special Surgery, 2010 Parsonage-Turner Syndrome (PTS), also referred to as idiopathic brachial plexopathy or neuralgic amyotrophy, is a rare disorder consisting of a complex constellation of symptoms with abrupt onset of shoulder pain, usually unilaterally, followed by progressive neurologic deficits of motor weakness, dysesthesias, and numbness.
Joseph H, Feinberg, Jeffrey, Radecki
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Turner syndrome and associated problems in turkish children: A multicenter study [PDF]
, 2015 Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls.
Abacı, A. +73 more
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