Results 31 to 40 of about 14,603 (207)
Background: In Klinefelter's syndrome patients with azoospermia, microscopic testicular sperm extraction (m-TESE) can be proposed as a therapeutic option.
Abdulmalik H Almardawi +6 more
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Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]
Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J +13 more
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A case report of Klinefelter syndrome with Schizophrenia-like psychosis and seizure disorder
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
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Phenotype Manifestations of Polysomy X At Males
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
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63 Clinical & Cytological Study on Klinefelter Syndrome
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
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48 / XXYY MALE CASE WITH PRIMARY INFERTILITY
Klinefelter syndrome is a sex chromosomal aneuploidies with at least one extra X chromosome than normal male karyotype. The classic form of the 47 / XXY karyotype, the incidence of this syndrome is one in 500-1000 live male births.
Mahmut BALKAN
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Novas perspectivas no diagnóstico do hipogonadismo pediátrico masculino: a importância do AMH como marcador de células de Sertoli [PDF]
Sertoli cells are the most active cell population in the testis during infancy and childhood. In these periods of life, hypogonadism can only be evidenced without stimulation tests, if Sertoli cell function is assessed.
Grinspon, Romina, Rey, Rodolfo Alberto
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Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders [PDF]
Klinefelter syndrome (KS) is one of the most common genetic causes of male infertility. This condition is associated with much comorbidity and with a lower life expectancy.
Calogero, A. E. +8 more
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Klinefelter syndrome (KS) is characterized by an additional X chromosome in males leading to a karyotype of 47,XXY. It is associated with an increased risk of certain malignancies, including leukemia, breast cancer and extragonadal germ cell tumor such ...
Derya Özyörük +5 more
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Psychological and Behavioral Characteristics of Chromosomal Anomalies and Congenital Contiguous Gene Syndrome [PDF]
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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