Molecular 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
Alterations in functional brain network structure induced by subchronic phencyclidine (PCP) treatment parallel those seen in schizophrenia [PDF]
, 2010 of poster presentation shown at the 2nd Biennial Schizophrenia International Research Conference on Alterations in functional brain network structure induced by subchronic phencyclidine (PCP) treatment parallel those seen in ...
Dawson, Neil +3 more
core +1 more source
Pregnancy outcome following prenatal diagnosis of chromosomal anomaly: a record linkage study of 26,261 pregnancies [PDF]
, 2016 Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies.
Cooper, Sally-Ann +4 more
core +1 more source
Combination of Klinefelter syndrome and celiac disease: A case report
Molecular Genetics and Metabolism Reports, 2017 Klinefelter syndrome (KS) is a chromosomal abnormality characterised by a 47, XXY karyotype associated with hypogonadism and infertility. We present a case of a 20-year-old patient who applied to our clinic because of growth deficiency and was ...
Ahmed Ramiz Baykan
doaj +1 more source
Tremor and Klinefelter’s Syndrome
Tremor 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
Epidemiology, genetics, and subtyping of preserved ratio impaired spirometry (PRISm) in COPDGene. [PDF]
, 2014 BackgroundPreserved Ratio Impaired Spirometry (PRISm), defined as a reduced FEV1 in the setting of a preserved FEV1/FVC ratio, is highly prevalent and is associated with increased respiratory symptoms, systemic inflammation, and mortality.
Beaty, Terri H +14 more
core +2 more sources
Rare 48, XYYY syndrome: case report and review of the literature
Clinical 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
Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development [PDF]
, 2017 Objective: Disorders in sex development (DSD) can be treated well medically, but families will encounter many psychosocial challenges. Promoting counselling to facilitate acceptance and coping is important yet equality of access is unknown.
Ahmed, S. Faisal +12 more
core +7 more sources
Screening of endocrine organ-specific humoral autoimmunity in 47,XXY Klinefelter's syndrome reveals a significant increase in diabetes-specific immunoreactivity in comparison with healthy control men. [PDF]
, 2015 The aim of this study was to evaluate the frequency of humoral endocrine organ-specific autoimmunity in 47,XXY Klinefelter’s syndrome (KS) by investigating the autoantibody profile specific to type 1 diabetes (T1DM), Addison’s disease (AD), Hashimoto ...
ANZUINI, Antonella +7 more
core +1 more source
Indian 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