Results 51 to 60 of about 14,603 (207)

Marginal zone lymphoma of mucosa associated lymphoid tissue-lymphoma of the lacrimal gland in a young patient with Klinefelter syndrome: a case report

Journal of Medical Case Reports
Background Klinefelter syndrome is considered one of the most common sex chromosome disorders affecting males. The presence of an extra X chromosome can alter the tendency to develop various cancers, including lymphomas.
Askar K. Alshaibani, Reem R. Alanazi, Bedour Akif Aleid, Saad M. Alosaimi   +3 more
doaj   +1 more source

Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity [PDF]

, 2017
Klinefelter syndrome (KS) (47,XXY) is the most common male sex chromosome aneuploidy. Diagnosis and clinical supervision remain a challenge due to varying phenotypic presentation and insufficient characterization of the syndrome.
Belling, Kirstine González-Izarzugaza, Brunak, Søren, Dalgaard, Marlene Danner, Jensen, Anders Boeck, Juul, Anders Christian, Rajpert-De Meyts, Ewa, Russo, Francesco, Skakkebæk, Niels E., Westergaard, David   +8 more
core   +2 more sources

Klinefelter’s syndrome and taurodontism

Archivio Italiano di Urologia e Andrologia, 2019
Objective: Taurodontism is a dental anomaly characterized by an enlarged pulp chamber and apycal displacement of the pulpar floor. The prevalence of taurodontism in normal population is controversial. It has been reported that taurodontism is frequently observed in Klinefelter’s patients.
Emilia, Giambersio, Vincenzo, Barile, Antonio Marcello, Giambersio   +2 more
openaire   +3 more sources

A survey of chromosome anomalies in Malta [PDF]

, 1989
433 individuals referred for chromosome analysis between 1983 and 1987 were included in the survey. Among individuals with dysmorphic features or congenital anomalies 42% of babies referred in the neonatal period and 12 to 30% of individuals in older age
Cuschieri, Alfred, Gauci, Sandra
core  

Sperm retrieval rate and pregnancy rate in infertile couples undergoing in-vitro fertilisation and testicular sperm extraction for non-obstructive azoospermia in Hong Kong [PDF]

, 2016
published_or_final_versio
Chai, J, Ho, KL, Ho, PC, Ko, KYJ, Lau, YLE, Lee, VCY, Li, RHW, Ng, EHY, Tam, PC, Yeung, WSB   +9 more
core   +1 more source

Síndrome 49 XXXXY. Alteraciones musculoesqueléticas: a propósito de 1 caso [PDF]

, 1996
Presentamos una valoración de las alteraciones musculoesqueléticas en un varón afecto de síndrome 49 XXXXY como una forma rara de polisomía dentro del síndrome de Klinefelter, así como los hallazgos patológicos más frecuentes de este síndromeWe present ...
Escribá Roca, Ismael, Sánchez Alepuz, Eduardo, Vicent Carsí, V.   +2 more
core  

Birth seasonality studies in a large Prader-Willi syndrome cohort. [PDF]

, 2019
Prader-Willi syndrome (PWS) is generally due to sporadic paternal deletions of the chromosome 15q11-q13 region followed by maternal disomy 15. Advanced maternal age is more commonly seen in those with maternal disomy 15. Environmental factors (e.g., drug
Butler, Merlin G, Driscoll, Daniel J, Dykens, Elisabeth, Gold, June Anne, Kimonis, Virginia, Miller, Jennifer L, Tamura, Roy   +6 more
core   +1 more source

Identification of common differentially expressed genes in Turner (45,X) and Klinefelter (47,XXY) syndromes using bioinformatics analysis

Molecular Genetics & Genomic Medicine, 2020
Background Analysis of patients with chromosomal abnormalities, including Turner syndrome and Klinefelter syndrome, has highlighted the importance of X‐linked gene dosage as a contributing factor for disease susceptibility. Escape from X‐inactivation and
María Carolina Manotas, Juan Camilo Calderón, Liliana López-Kleine, Fernando Suárez-Obando, Olga M. Moreno, Adriana Rojas   +5 more
doaj   +1 more source

Dizygotic twin pseudochimaerism initially diagnosed as mosaic Klinefelter syndrome on microarray: case report

BMJ Connections Clinical Genetics and Genomics
Background Chimaerism is a rare genetic condition where an individual possesses two or more distinct cell lines originating from different zygotes. This case report highlights the diagnostic challenge presented by pseudochimaerism in a patient initially ...
Declan O’Rourke, Aisling Lyons, Sumaiya Al-Rashdi, Elizabeth Whitmore, AnnMarie Hegarty   +4 more
doaj   +1 more source

Klinefelter syndrome in children and adolescents: combination of genetics and endocrinology

Mìžnarodnij Endokrinologìčnij Žurnal, 2019
The purpose was to analyze literature on the etiology and pathogenesis of Klinefelter syndrome (KS). The review of scientific literature regarding KS by the key words “Klinefelter syndrome”, Klinefelter-Reifenstein-Albright syndrome”, “pubertal ...
T.V. Sorokman, N.O. Popeliuk, O.V. Makarova   +2 more
doaj   +1 more source