Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
[Prenatal diagnosis analysis of three cases of Turner syndrome fetuses with complex mosaic small supernumerary marker chromosomes].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
November 2024
Prenatal Diagnostic Center, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China.
Objective: To explore the value of applying multiple genetic testing techniques for the prenatal diagnosis of Turner syndrome fetuses with complex mosaic small supernumerary marker chromosomes (sSMC).
Methods: Chromosomal karyotypes of amniotic fluid samples from 5 030 pregnant women who had undergone amniocentesis at the Prenatal Diagnosis Center of the Third Affiliated Hospital of Zhengzhou University from January to December 2022 were retrospectively reviewed. Three fetuses with complex mosaicism fetuses (carrying 2 types of sSMC) were selected as the study subjects.
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.
Genome Res
November 2024
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden;
Clinical genetic laboratories often require a comprehensive analysis of chromosomal rearrangements/structural variants (SVs), from large events like translocations and inversions to supernumerary ring/marker chromosomes and small deletions or duplications. Understanding the complexity of these events and their clinical consequences requires pinpointing breakpoint junctions and resolving the derivative chromosome structure. This task often surpasses the capabilities of short-read sequencing technologies.
View Article and Find Full Text PDFClinical and molecular cytogenetic findings of cat eye syndrome and a 2-year-old patient with congenital aural atresia and hearing loss.
BMC Pediatr
October 2024
School of Life Sciences, Bengbu Medical University, 2600 Donghai Avenue, Bengbu, 233000, China.
Background: Cat eye syndrome (CES) is a rare congenital disease frequently caused by a partial tetrasomy of the proximal long (q) arm of chromosome 22, due to a small supernumerary marker chromosome (sSMC). CES patients show remarkable phenotypic variability. Despite the progress of molecular cytogenetic technology, the cause of phenotypic variability and the genotype-phenotype correlations remain unknown.
View Article and Find Full Text PDF[Prenatal diagnosis of a fetus with 15q11q13 complex duplication syndrome and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2024
Laboratory for Comprehensive Prevention and Treatment of Birth Defects, Ningbo Women & Children's Hospital, Ningbo, Zhejiang 315012, China.
Article Synopsis
- The study aims to investigate a fetus diagnosed with 15q11q13 complex duplication syndrome, focusing on its clinical features and genetic causes.
- Clinical data was collected and advanced genetic tests were performed, including karyotyping and exome sequencing, revealing significant chromosomal duplications originating from the mother.
- Literature review identified 11 similar cases of hexasomy associated with intellectual and developmental challenges, suggesting a pattern of mental retardation and other developmental delays linked to this syndrome.
Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases.
Chromosome Res
July 2024
Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou City, 350001, Fujian Province, China.
Article Synopsis
- - Background research on small supernumerary marker chromosomes (sSMCs) indicates that their structure and origins are poorly understood, making it challenging to provide accurate genetic counseling for affected fetuses.
- - A study analyzing 36 sSMC cases revealed that 19 were mosaic, and 27 had pathogenic or likely pathogenic copy number variants (CNVs), with notable associations to Turner syndrome and other syndromes based on specific CNVs identified.
- - The findings highlight the importance of cytogenetic analysis in determining the pathogenic nature of sSMCs, which can significantly improve the accuracy of genetic counseling for affected families.
Want 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!