The study of chromosome abnormalities in solid tumours provides valuable information for the diagnosis and prognostic stratification of a variety of tumour subtypes. Technical challenges are encountered in tissue culture, harvesting and finally the interpretation of complex chromosome abnormalities. Molecular cytogenetic studies complement karyotype analysis, but the ability to assess all chromosome abnormalities simultaneously underscores the value of conventional cytogenetic analysis. This chapter provides detailed methods for solid tumour cytogenetics from tissue culture to banding.
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http://dx.doi.org/10.1007/978-1-61779-074-4_13 | DOI Listing |
Intrachromosomal amplification of chromosome 21 (iAMP21) B-cell precursor acute lymphoblastic leukemia (BCP-ALL) in children is a high-risk subtype for which targeted drugs are lacking. In this study, we determined the frequency of secondary lesions in 28 iAMP21 BCP-ALL patient samples and investigated cellular sensitivity for candidate-targeted drugs. iAMP21 was enriched in aberrations (10.
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January 2025
Reproductive Medicine Center, Jiangxi Maternal and Child Health Hospital, 318 Bayi Avenue, Nanchang, 330006, China.
To explore the genetic cause of a four-generation severe intellectual disability in a Chinese family using nanopore sequencing and to provide genetic counseling and reproductive guidance for family members. Multiple genetic analyses of the proband and family members were performed, including chromosome karyotype analysis, whole exome sequencing, nanopore sequencing, PCR amplification, and Sanger sequencing. The results of G-binding karyotyping, CGG repeats for FMR1, GGC repeats for NOTCH2NCL, and trio-whole-exome sequencing were negative for the proband and his parents.
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January 2025
National Clinical Research Center for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Optical genome mapping (OGM) offers high consistency in simultaneously detecting structural and copy number variants. This study aimed to retrospectively evaluate the efficacy and potential applications of OGM in preconception genetic counseling. Herein, 74 samples from 37 families were included, and their results of OGM were compared to conventional methods, namely karyotyping (KT) and chromosomal microarray analysis (CMA), which identified 27 variants across 16 positive families.
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January 2025
Department of Biology, Case Western Reserve University, Cleveland, OH, USA.
Tylosema esculentum (marama bean), an underutilized orphan legume native to southern Africa, holds significant potential for domestication as a rescue crop to enhance local food security. Well-adapted to harsh desert environments, it offers valuable insights into plant resilience to extreme drought and high temperatures. In this study, k-mer analysis indicated marama as an ancient allotetraploid legume.
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January 2025
Medical Genetic Centre, Guangdong Women and Children Hospital, Guangzhou, 511442, Guangdong, China.
To evaluate the value of increasing sequencing depths of non-invasive prenatal testing (NIPT) for fetal chromosomal aneuploidies based on the semiconductor sequencing platform. This study recruited a cohort of 59,800 singleton pregnancies from Guangdong Women and Children Hospital between January 2015 and December 2020, including 48,018 cases of NIPT and 11,782 cases of expanded NIPT. Cell-free DNA from plasma samples was sequenced at a sequencing depth of 0.
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