Results 41 to 50 of about 14,603 (207)

A Unique Intersection: Exploring Cerebral Anomalies in Klinefelter Syndrome [PDF]

Iranian Journal of Neonatology
Background: Klinefelter syndrome (KS) is the most prevalent sex-chromosome aberration and the leading genetic cause of male hypogonadism. This chromosomal anomaly results in male hypergonadotropic hypogonadism, androgen deficiency, impaired ...
Aslan Ahmadi, Mohammad Hossein Torkan, Ayda Sanaei, Reza Naseri   +3 more
doaj   +1 more source

A Rare Case Report of Inguinal Hernia with Persistent Mullerian Duct and Klinefelter Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2016
Inguinal hernia in male is a common problem but having female reproductive organs in hernial sac is rare. It occur because of failure of mullerian duct to regress in a male fetus during embryonic development, result in a syndrome known as Persistent ...
Darpan Dadheech, Prabha Om, Sharma Ankit Shridatt, Ankur Patni, Naveen Verma   +4 more
doaj   +1 more source

Klinefelter Syndrome With Leg Ulcers

Indian Journal of Dermatology, 1999
Leg ulcers are frequently caused by venous insufficiency, arterial insufficiency, neuropathy, or a combination of these factors. Klinefelter syndrome in association with chronic leg ulcers have been reported earlier.
Narendra G, Sasikala K, Karthikeyan D P, Srinivas C R   +3 more
doaj  

The Number of X Chromosomes Influences Inflammatory Cytokine Production Following Toll-Like Receptor Stimulation

Frontiers in Immunology, 2019
Sex differences are observed in the evolution of numerous inflammatory conditions. Women exhibit better clinical courses compared to men in acute inflammatory processes, yet worse prognosis in several chronic inflammatory diseases.
Nicolas Lefèvre, Nicolas Lefèvre, Francis Corazza, Joseph Valsamis, Anne Delbaere, Viviane De Maertelaer, Jean Duchateau, Georges Casimir, Georges Casimir   +8 more
doaj   +1 more source

Clinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report

Molecular Cytogenetics, 2022
Background Hemophilia A is considered one of the most common severe hereditary disorders. It is an X-linked recessive disease caused by a deficiency or lack of function of the blood clotting factor VIII.
Anibal Gaviria, Santiago Cadena-Ullauri, Francisco Cevallos, Patricia Guevara-Ramirez, Viviana Ruiz-Pozo, Rafael Tamayo-Trujillo, Elius Paz-Cruz, Ana Karina Zambrano   +7 more
doaj   +1 more source

Effects of sex chromosome dosage on corpus callosum morphology in supernumerary sex chromosome aneuploidies. [PDF]

, 2014
BackgroundSupernumerary sex chromosome aneuploidies (sSCA) are characterized by the presence of one or more additional sex chromosomes in an individual's karyotype; they affect around 1 in 400 individuals.
Blumenthal, Jonathan D, Giedd, Jay N, Joshi, Shantanu H, Reuter, Martin, Thompson, Paul M, Toga, Arthur W, Wade, Benjamin SC   +6 more
core   +3 more sources

Case report: Klinefelter syndrome may protect against the development of spinal and bulbar muscular atrophy

Frontiers in Neurology
Spinal and bulbar muscular atrophy (SBMA) is an X-linked recessive motor neuron disease caused by the expansion of cytosine-adenine-guanine (CAG) repeats in the androgen receptor (AR) gene.
Haruna Akanuma, Suguru Kadowaki, Kazuaki Kanai   +2 more
doaj   +1 more source

Psychiatric symptoms in Klinefelter’s syndrome: A case report

Psychiatry and Clinical Psychopharmacology, 2021
Klinefelter’s syndrome is a relatively common hereditary disease. Psychiatric symptoms are often seen beside of typical physical features. In this case report, diagnostic process of a 30 year old Klinefelter’s syndrome with patient who had been admitted
Ozan Pazvantoğlu, Tuncer Okay, Nesrin Dilbaz, Kanay Yararbaş, Işık Bökesoy   +4 more
doaj  

Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men

Asian Journal of Andrology, 2015
Klinefelter syndrome and Y-chromosomal microdeletion analyses were once the only two genetic tests offered to infertile men. Analyses of aurora kinase C (AURKC) and DPY19L2 are now recommended for patients presenting macrozoospermia and globozoospermia ...
Leyla Ounis, Abdelali Zoghmar, Charles Coutton, Leila Rouabah, Maroua Hachemi, Delphine Martinez, Guillaume Martinez, Ines Bellil, Douadi Khelifi, Christophe Arnoult, Julien Fauré, Sebti Benbouhedja, Abdelkader Rouabah, Pierre F Ray   +13 more
doaj   +1 more source

Glasgow Contributions to the Human Gene Mapping Project, 1959-1987 [PDF]

, 2015
No abstract ...
Ferguson-Smith, Malcolm
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