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Background: Amenorrhea is defined as the absence of menstruation at the reproductive age of women. Amenorrhea caused by various etiological factors including genetic factors, intrauterine malformations, endocrine dysfunction, and environmental factors. Genetic factors particularly chromosomal abnormalities are the main cause of Amenorrhea. This study was performed to estimate the frequency and types of chromosomal abnormalities in patients with amenorrhea in the northeast of Iran.
Methods: A total of 381 women with the history of amenorrhea participated in this study. Peripheral blood lymphocyte cultures were performed according to the standard GTG banding method.
Results: 296 (77%) of a total of all cases had a normal karyotype (46, XX) while 85 patients (23%) had abnormal karyotype. The numerical and structural abnormalities of X chromosome were observed in 52 (61%), the abnormalities of Y chromosome were observed in 23 (27.2%) and rearrangements between autosomal and/or sex chromosomes were observed in 10 (11.8%).
Conclusion: The present study revealed that cytogenetic study is essential for early diagnosis and treatments of Amenorrhea.
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http://dx.doi.org/10.52547/rbmb.11.3.450 | DOI Listing |
Introduction: The SOX9 gene encodes a transcription factor that acts downstream of the Y-linked SRY gene and plays a pivotal role in fetal testis development. Duplication of SOX9 or its regulatory sequences is a known cause of testicular or ovotesticular disorder of sex development (DSD) in chromosomal females (XX DSD). Numerous reports have described canine XX DSD, characterized by virilization (e.
View Article and Find Full Text PDFPol Merkur Lekarski
September 2025
NEAPOLIS UNIVERSITY, NEAPOLIS, CYPRUS.
Objective: Aim: To provide a comprehensive understanding of the profound developmental and medical challenges associated with this condition..
Patients And Methods: Materials and Methods: Τhis study employed a narrative review methodology, drawing upon a wide range of peer-reviewed scientific literature, clinical guidelines, and case studies.
J Chem Ecol
September 2025
Department of Environment and Biodiversity, University of Salzburg, Hellbrunner Strasse 34, Salzburg, 5020, Austria.
Polyploidy is an important driver of the evolution and diversification of flowering plants. Several studies have shown that established polyploids differ from diploids in floral morphological traits and that polyploidization directly affects these traits. However, for floral scent, which is key to many plant-pollinator interactions, only a few studies have quantified differences between established cytotypes, and the direct effects of polyploidization on floral scent are not yet known.
View Article and Find Full Text PDFFront Genet
August 2025
Department of Medical Genetics, Jiangxi Maternal and Child Health Hospital, Nanchang, China.
Objective: The aim of this study was to determine the diagnostic value of prenatal chromosomal microarray analysis (CMA) for fetuses at high risk for various conditions on chromosomal abnormalities.
Methods: In the study, 8,560 clinical samples were collected from pregnant women between February 2018 and June 2022, including 75 villus, 7,642 amniotic fluid, and 843 umbilical cord blood samples. All samples were screening for chromosomal abnormalities using both CMA and karyotyping.
Case Rep Genet
September 2025
Division of Maternal-Fetal Medicine, Department of Obstetrics & Gynecology, University of California, Irvine, California, USA.
Nonimmune hydrops fetalis (NIHF) refers to the pathologic accumulation of fluid within the fetus due to causes other than red cell alloimmunization and now accounts for up to 90% of fetal hydrops cases. Fetal hydrops is associated with significant morbidity and mortality, and the exact prognosis is largely dependent on the underlying etiology. The most common etiologies include cardiovascular causes and chromosomal or genetic abnormalities.
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