Chromosomal investigations of lymphocytic cultures in 26 couples and 11 women with repeated miscarriages or children with congenital anomalies have been performed. In 5 cases chromosomal aberrations and in 3 cases chromosomal lesions have been found. These results are helpful in genetic consultation and aetiological investigations.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Case report: Comprehensive evaluation and management of male infertility with complete AZFC microdeletion and undescended testicle.
Urol Case Rep
March 2025
Private Practice, Istanbul, Turkiye.
This case report presents a 31-year-old male patient with primary infertility, a unilaterally undescended testicle, and a complete AZFc microdeletion. Despite failed attempts at testicular sperm extraction, the patient underwent successful microscopic testicular sperm extraction and subsequent viable sperm extraction, leading to successful fertilization through intracytoplasmic sperm injection (ICSI). The report underscores the potential for successful ICSI in male infertility cases with complex genetic and reproductive issues, highlighting the importance of comprehensive genetic evaluation and individualized reproductive techniques in managing male infertility associated with undescended testicle and genetic anomalies.
View Article and Find Full Text PDFSpectrum and carcinogenic properties of thyroglobulin gene fusions in thyroid.
Endocr Relat Cancer
January 2025
A Nikitski, Department of Pathology, University of Pittsburgh, Pittsburgh, 15261, United States.
Approximately 10-20% of thyroid cancers are driven by gene fusions, which activate oncogenic signaling through aberrant overexpression, ligand-independent dimerization, or loss of inhibitory motifs. We identified 13 thyroid tumors with thyroglobulin (TG) gene fusions and aimed to assess their histopathology and the fusions' oncogenic and tumorigenic properties. Of 11 cases with surgical pathology, 82% were carcinomas and 18% noninvasive follicular thyroid neoplasms with papillary-like nuclear features (NIFTP).
View Article and Find Full Text PDFApplication of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders.
BMC Genomics
January 2025
Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, Hubei, 430030, China.
Background: Left-right (LR) asymmetry disorders present a complex etiology, with genetic factors emerging as a primary contributor. This study aims to explore the genetic underpinnings of chromosomal variants and individual genes in fetuses afflicted with prenatal LR asymmetry disorder.
Methods: Through a retrospective analysis conducted between 2020 and 2023 at Tongji Hospital, Huazhong University of Science and Technology, genetic outcomes of LR asymmetric disorder were scrutinized utilizing copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) methodologies.
Hepatosplenic T-cell lymphoma in children and adolescents.
Blood Adv
January 2025
Univeristy of Alabama at Birmingham, Birmingham, Alabama, United States.
Hepatosplenic T-cell lymphoma (HSTCL) is an aggressive mature T-cell lymphoma characterized by significant hepatosplenomegaly, bone marrow involvement, and minimal or no lymphadenopathy. Primarily affecting young adults, it is exceptionally rare in children and adolescents. This makes diagnosis and treatment particularly challenging for pathologists and pediatric oncologists.
View Article and Find Full Text PDFA TTPA deletion is associated with Retinopathy with Vitamin E Deficiency (RVED) in the English Cocker Spaniel Dog.
G3 (Bethesda)
January 2025
Canine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridgeshire, CB3 0ES, UK.
Retinopathy with Vitamin E Deficiency (RVED) is a familial disease in the English Cocker Spaniel (ECS) dog breed. Ophthalmic abnormalities observed in RVED-affected ECS include lipofuscin granule deposition within the tapetal fundus and subsequent retinal degeneration resulting in visual deficits. Affected dogs may also exhibit neurological signs that include ataxia and hindlimb proprioceptive deficit.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!