Chromosome stains

Background: Genetic disorders contribute to significant morbidity and mortality in critically ill newborns. Despite advances in genome sequencing technologies, a majority of neonatal cases remain unsolved. Complex structural variants (SVs) often elude conventional genome sequencing variant calling pipelines and will explain a portion of these unsolved cases. Methods:As part of the Utah NeoSeq project, we used a research-based, rapid whole-genome sequencing (WGS) protocol to investigate the genomic etiology for a newborn with a left-sided congenital diaphragmatic hernia (CDH) and cardiac malformations, whose mother also had a history of CDH and atrial septal defect.

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“…Chromosome analysis and karyotype generation were performed on metaphase preparations from whole blood using standard procedures (Lawce, 2017).…”

Section: Methodsmentioning

confidence: 99%

Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

Nicholas

Al-Sweel

Farrell

et al. 2022

Molec Gen & Gen Med

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“…Karyotyping was performed as previously described [14]. Briefly, upon receipt of amniotic fluid (10-20 mL), general description was recorded (color, opacity, and presence of blood).…”

Section: Methodsmentioning

confidence: 99%

“…We set to investigate the chromosomal abnormalities and correlate them with the indications for invasive prenatal testing in order to optimize the guidelines for prenatal diagnosis, and to determine the chromosomal abnormalities that would be missed by stand-alone QF-PCR on noninvasive prenatal testing for five common aneuploidies. Chromosomal abnormalities were recoded according to ISCN 2008 and reclassified later as numerical or structural abnormalities [13,14]. Normal variants such as pericentric inversion of chromosome 9 and loss of heterochromatic on chromosome Y were reported but classified as clinically insignificant findings.…”

Section: Introductionmentioning

confidence: 99%

Clinical Significance of Conventional Karyotype and QF-PCR in Detection of Fetal Chromosomal Abnormalities

Kozaric

Hukić

Hasic

et al. 2017

Journal of Fetal Medicine

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This study aims to compare the advantages of two widely used methods for fetal chromosomal detection, karyotyping and QF-PCR, together with the indications for invasive prenatal diagnosis. We retrospectively investigated 888 amniocenteses analyzed by karyotyping only or karyotyping combined with QF-PCR. We assessed the results of each method and compared them to the indications for prenatal testing including maternal age, fetal ultrasound findings, and serum screening. We found 39 (4.4%) abnormalities, where 59% of those abnormalities were numerical and 41% were structural abnormalities undetectable by QF-PCR methods. Many structural abnormalities do not have clinical significance and we found that 23% of found structural abnormalities were clinically significant but undetectable by QF-PCR (0.3% of all amniocentesis analyzed). Additional 23% of found structural abnormalities were balanced translocations which can have rare clinically significant consequences. In total, 46% of found structural abnormalities had possible clinical consequences, which were undetectable by QF-PCR, or by noninvasive prenatal testing for five common aneuploidies. Thus, QF-PCR is a reliable method to detect most common fetal aneuploidies, but karyotyping should be used if any other chromosomal abnormalities are suspected. Even though QF-PCR is a fast and reliable method, physicians should be aware of the limitations of various methodologies for detection of fetal abnormalities and assign the proper method to the indication for amniocentesis.

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“…This procedure should be useful in veterinary cytogenetics, especially with regards to endangered species [54 The simultaneous hybridization of chromosome specific composite probes is the basis on which SKY was build. For humans and mouse, probes are generated after sorting the chromosomes through flow cytometry [55]. Each chr library is generated by labelling them with single or a combination of multiple fluorochromes, which produce specific spectra for the chromosomes.…”

Section: Spectral Karyotyping and Multicolormentioning

confidence: 99%

“…The spectral signatures are measured at all image points, all pixels with identical spectra are assigned unique colors and this measurement is used for chromosome classification [28,56]. With this technique, specific colour are assigned to each chromosome and the image is acquired with a single filter set [55] (Fig. 4).…”

Section: Spectral Karyotyping and Multicolormentioning

confidence: 99%

Application of Veterinary Cytogenetics in Domestic Animals: A Review

Yahaya

Salisi

Isa

et al. 2019

ARRB

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Cytogenetics is the study of chromosomes; their structure and properties, chromosome behavior during cell division, their influence on traits and factors which cause changes in chromosomes. Veterinary cytogenetics is the application of cytogenetics to clinical problems that occur in animal production. It has been applied to understand problems such as infertility and its types, embryonic and fetal death, abnormality in sexual and somatic development and hybrid sterility and also prenatal sex determination and other forms of chromosomal abnormalities. These are achieved through conventional and banded karyotyping techniques and molecular cytogenetic techniques. Although conventional techniques are still useful and very widely applied, the nature of cytogenetics has gradually changed as a result of advances achieved in the molecular cytogenetic techniques for example fluorescent in situ hybridization and array-based techniques. These changes are evident in both molecular diagnostics and basic research. The combination of conventional and molecular cytogenetics has given rise to high resolution techniques which have enabled the study of fundamental questions regarding biological processes. It enables the study of inherited syndromes, the mechanisms of tumorigenesis at molecular level, genome organization and the determination of chromosome homologies between species. It allows the ease with which animals are selected in breeding programs and other important aspects of animal production. In this paper we discussed a number of techniques employed in cytogenetics and their methodologies, and recommend where future focus should be for the benefits of animal production.

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Chromosome stains

Cited by 7 publications

References 279 publications

Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

Clinical Significance of Conventional Karyotype and QF-PCR in Detection of Fetal Chromosomal Abnormalities

Application of Veterinary Cytogenetics in Domestic Animals: A Review

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