Relevant portions of the new International System for Human Cytogenetic Nomenclature (ISCN 1995) have been reproduced in this appendix (with permission from Karger, the original publisher). The new rules supersede all previous rules and include guidelines for cancer cytogenetics as well as new recommendations for nomenclature when in situ hybridization techniques are used in the analysis of chromosomes.
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| http://dx.doi.org/10.1002/0471142905.hga04as18 | DOI Listing |
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Molecular cytogenetic study of the fetal genome in idiopathic recurrent pregnancy loss.
Int J Gynaecol Obstet
January 2025
Scientific Centre of Obstetrics, Gynecology and Perinatology, Almaty, Republic of Kazakhstan.
Objective: Despite numerous studies on the causes of recurrent pregnancy loss (RPL), nearly half of cases remain unidentified, which determines the research relevance. This study aims to investigate microchromosomal variations in the fetal genome associated with the development of idiopathic RPL.
Methods: The research was supported by the Centre for Molecular Medicine and the Research Institute of Obstetrics, Gynecology and Perinatology and conducted over a period of 2 years.
New insights into interspecies relationships, chromosomal evolution, and hybrid identification in the Lycoris Herb.
BMC Plant Biol
January 2025
Jiangxi Provincial Key Laboratory of Subtropical Forest Resources Cultivation, 2011 Collaboration Innovation Center of Jiangxi Typical Trees Cultivation and Utilization, Jiangxi Agricultural University, Nanchang, Jiangxi, 330045, China.
Background: Frequent interspecific hybridization, unclear genetic backgrounds, and ambiguous evolutionary relationships within the genus Lycoris pose significant challenges to the identification and classification of hybrids, thereby impacting the application and development of Lycoris. This study utilizes karyotype structure, genome size, and fluorescent in situ hybridization (FISH) technology to explore the chromosomal evolution and hybrid identification of Lycoris employing three approaches at the cytogenetic level.
Results: The findings indicate that species with a smaller basic chromosome number exhibit less asymmetry than those with a larger basic chromosome number, suggesting that species with different basic chromosome numbers may have followed different evolutionary pathways.
Evaluation of sleep disorders in children and adolescents affected by Klinefelter syndrome.
Eur J Pediatr
January 2025
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Unlabelled: Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males (47,XXY karyotype in 80-90% of cases), primarily characterized by hypergonadotropic hypogonadism and infertility. It encompasses a broad phenotypic spectrum, leading to variability in neurocognitive and psychosocial outcomes among affected individuals. Despite the recognized correlation between KS and various neuropsychiatric conditions, studies investigating potential sleep disorders, particularly in pediatric subjects, are lacking.
View Article and Find Full Text PDFFetal intracranial hemorrhage in second trimester: An ominous finding even after a normal array.
Taiwan J Obstet Gynecol
January 2025
Genetics Lab of Longgang Maternity and Child Institute of Shantou University Medical College (Longgang District Maternity & Child Healthcare Hospital of Shenzhen City), Shenzhen, Guangdong, China. Electronic address:
Objective: This is a case report of a COL4A1 gene mutation which was confirmed by further genetic testing following anomalies observed in prenatal ultrasound and fetal brain magnetic resonance imaging (MRI).
Case Reports: The ultrasound examination of the patient revealed a mass in fetal left intracranial cavity. Repeated subsequent MRI detected an evolving mass in the left frontal parietal lobe.
[Genetic analysis of a Chinese pedigree with rare mosaic 11q partial duplication and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Obstetrics and Gynecology, the Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China.
Objective: To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.
Methods: A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree.
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