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| http://dx.doi.org/10.4322/acr.2020.168 | DOI Listing |
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Prevalence of AZFс Y chromosome microdeletions and association with spermatogenesis in Russian men from the general population.
Vavilovskii Zhurnal Genet Selektsii
November 2024
Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.
The Y chromosome contains a set of genes with testis-specific expression that are responsible for the development of testes and spermatogenesis, and it is the most important target in the search for genetic causes of male infertility. Most of these genes are located in the "azoospermia factor" AZF locus (regions AZFa, AZFb, and AZFc) on the long arm of the Y chromosome. Microdeletions of the Y chromosome, leading to the removal of the entire AZF locus as well as one or more regions (complete deletions), are one of the leading causes of spermatogenesis impairment and infertility.
View Article and Find Full Text PDFSystemic lupus erythematosus in a patient with 22q11.2 deletion syndrome: A case report and review of the literature.
Cent Eur J Immunol
November 2024
Department of Rheumatology and Immunology, Hangzhou Normal University Affiliated Hospital, Hangzhou, China.
22q11.2 deletion syndrome (MIM: 192430/188400, ORPHA: 567) is the most common chromosomal microdeletion disorder, caused by a hemizygous microdeletion of 2.5 million base pairs on chromosome 22.
View Article and Find Full Text PDFDevelopment and validation of a multiplex chip-based droplet digital PCR method for detecting CNVs in 7q11.2 and 22q11.2 regions.
Clin Chim Acta
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Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Center of Laboratory Medicine, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China; State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China. Electronic address:
Copy number variations (CNVs) in the 7q11.2 and 22q11.2 chromosomal regions are major contributors to genetic disorders such as Williams-Beuren syndrome and 22q11.
View Article and Find Full Text PDFMolecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.
Eur J Med Genet
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Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant neurodevelopmental disorder mainly characterized by global development delay/intellectual disability, white matter abnormalities, and behavioral manifestations. It is caused by pathogenic variants in the KMT2E gene. Here we report seven new patients with loss-of-function KMT2E variants, six harboring frameshift/nonsense changes, and one with a 7q22.
View Article and Find Full Text PDFIndependent factors associated with intracytoplasmic sperm injection outcomes in patients with complete azoospermia factor c microdeletions.
Hum Reprod Open
November 2024
Department of Urology, Peking University Third Hospital, Beijing, China.
Study Question: Which independent factors influence ICSI outcomes in patients with complete azoospermia factor c (AZFc) microdeletions?
Summary Answer: In patients with complete AZFc microdeletions, the sperm source, male LH, the type of infertility in women, and maternal age are the independent factors associated with ICSI outcomes.
What Is Known Already: AZF microdeletions are the second most prevalent factor contributing to infertility in men, with AZFc microdeletions being the most frequently affected locus, accounting for 60-70% of all cases. The primary clinical phenotypes are oligoasthenozoospermia and azoospermia in patients with complete AZFc microdeletions.
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