Results 21 to 30 of about 1,228,636 (220)

Tremor and Klinefelter’s Syndrome

open access: yesTremor and Other Hyperkinetic Movements, 2015
Background: Klinefelter’s syndrome (KS) has been associated with tremor, but reports on tremor phenomenology and treatment are limited. Case Reports: Patient 1 is a 17‐year‐old male with a dystonic tremor treated with deep brain stimulation (DBS).
Rabin, Marcie L.   +2 more
openaire   +5 more sources

Providing information on Klinefelter syndrome

open access: yes, 2003
The aim of this study was to compare the information that midwives, obstetricians and geneticists report they would give parents following the prenatal diagnosis of Klinefelter syndrome.
Bobrow, M   +9 more
core   +3 more sources

Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis

open access: yesMolecular Cytogenetics, 2022
Background Klinefelter syndrome is a common chromosomal (aneuploidy) disorder associated with an extra X chromosome in males. Regardless of numerous studies dedicated to somatic gonosomal mosaicism, Klinefelter syndrome mosaicism (KSM) has not been ...
Svetlana G. Vorsanova   +7 more
doaj   +1 more source

Rare 48, XYYY syndrome: case report and review of the literature

open access: yesClinical Case Reports, 2018
Key Clinical Message 48, XYYY syndrome is a rare condition. A male with 32‐year‐old and three Y chromosomes is described. This syndrome is phenotypically similar to Klinefelter syndrome.
Maryam Abedi   +2 more
doaj   +1 more source

First baseline data of the Klinefelter ItaliaN Group (KING) cohort: clinical features of adult with Klinefelter syndrome in Italy [PDF]

open access: yes, 2022
Klinefelter syndrome (KS) is frustratingly under-diagnosed. KS have a broad spectrum of clinical features, making it difficult to identify.  OBJECTIVE: We describe KS clinical presentation in a large Italian ...
Bonomi, M   +92 more
core   +1 more source

Phenotype Manifestations of Polysomy X At Males

open access: yesBiomolecules & Biomedicine, 2008
Klinefelter Syndrome is the most frequent form of male hypogonadism. It is an endocrine disorder based on sex chromosome aneuploidy. Infertility and gynaecomastia are the two most common symptoms that lead to diagnosis. Diagnosis of Klinefelter syndrome
Amra Ćatović
doaj   +1 more source

Klinefelter syndrome diagnosed at autopsy and small-cell lung carcinoma

open access: yesRespiratory Medicine Case Reports
Klinefelter syndrome is characterized by endocrine abnormalities, gynecomastia, female-like body shape, and mild intellectual disability. However, the diagnosis of Klinefelter syndrome is often missed due to the lack of characteristic findings.
Haruyasu Sakuranaka   +5 more
doaj   +1 more source

An adolescent with 48,xxyy syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations

open access: yesIndian Journal of Endocrinology and Metabolism, 2012
48,XXYY is a rare sex chromosome aneuploidy affecting 1 in 18,000 to 50,000 male births. They present with developmental delay, hypogonadism, gynecomastia, intention tremors, and a spectrum of neurodevelopmental and psychiatric disorders.
Prasad Katulanda   +4 more
doaj   +1 more source

63 Clinical & Cytological Study on Klinefelter Syndrome

open access: yesJK Science, 2022
Klinefelter Syndrome is a chromosomal disorder with addition of X sex chromosome (47XXY) in males. A patient attended to our hospital with loss of secondary sexual characteristics and male infertility.
Siddanagouda M Biradar   +2 more
doaj  

A case report of Klinefelter syndrome with Schizophrenia-like psychosis and seizure disorder

open access: yesIndian Journal of Psychological Medicine, 2015
Klinefelter syndrome is a disorder of variation of sex chromosome, the most common karyotype being 47XXY. Multiple case reports and articles have been published linking the increased prevalence of psychiatric disorders like Schizophrenia ...
Anu Rita Jayaraman   +2 more
doaj   +1 more source

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