Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-5c6d5d7d68-qks25 Total loading time: 0 Render date: 2024-08-07T15:19:38.316Z Has data issue: false hasContentIssue false

Chapter 6 - Cytogenetics and Molecular Diagnostics

from Ancillary Studies

Published online by Cambridge University Press:  07 August 2021

Mirna Lechpammer ,
Marc Del Bigio  and
Rebecca Folkerth
By
Mirna Lechpammer
Mirna Lechpammer
Affiliation:
New York University School of Medicine
Marc Del Bigio
Affiliation:
University of Manitoba, Canada
Rebecca Folkerth
Affiliation:
New York University School of Medicine
Get access

Summary

Cytogenetics, the study of the function, number, and structure of chromosomes, is one of the central components in understanding somatic and constitutional genetic disorders. Prenatal and/or postnatal chromosome analysis can provide important data regarding a growing fetus or serve as a diagnostic tool for congenital abnormalities, mental and physical disabilities, and recurrent miscarriages. Congenital anomalies are often the result of uneven or numerical structural abnormalities of chromosomes. The diagnostic capabilities in the field of genetic counseling have been improved through significant advances in cytogenetic technologies, specifically in the chromosomal analysis.

Type
Chapter
Information
Perinatal Neuropathology , pp. 25 - 30
Publisher: Cambridge University Press
Print publication year: 2021

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Gonzales, PR, Carroll, AJ, Korf, BR. Overview of clinical cytogenetics. Curr Protoc Hum Genet. 2016;89:8.1.1–8.1.13.Google ScholarPubMed
Hardisty, EE, Vora, NL. Advances in genetic prenatal diagnosis and screening. Curr Opin Pediatr. 2014;26(6):634–8.Google Scholar
Rhoads, GG, Jackson, LG, Schlesselman, SE, de la Cruz, FF, Desnick, RJ, Golbus, MS, et al. The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med. 1989;320(10):609–17.CrossRefGoogle ScholarPubMed
Cherry, A, Akkari, Y, Barr, K, Kearney, H, Rose, N, South, S et al. Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2017;19(8):845–50.CrossRefGoogle ScholarPubMed
Srebniak, M, Van Opstal, D, Joosten, M, Diderich, K, de Vries, F, Riedijk, S et al. Whole-genome array as a first-line cytogenetic test in prenatal diagnosis. Ultrasound Obstet Gynecol. 2015;45(4):363–72.Google Scholar
Filipovic-Sadic, S, Sah, S, Chen, L, Krosting, J, Sekinger, E, Zhang, W, et al. A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem. 2010;56(3):399–408.CrossRefGoogle ScholarPubMed
Kashork, CD, Theisen, A, Shaffwer, G. Diagnosis of cryptic chromosomal syndromes by fluorescence in situ hybridization (FISH). Curr Protoc Hum Genet. 2010;8.10.1–20.CrossRefGoogle Scholar
Miller, DT, Adam, MP, Aradhya, S, Biesecker, LG, Brothman, AR, Carter, NP, et al. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749–64.CrossRefGoogle ScholarPubMed
Bi, W, Borgan, C, Pursley, AN, Hixson, P, Shaw, CA, Bacino, CA, et al. Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era? Genet Med. 2013;15(6):450–7.CrossRefGoogle ScholarPubMed
Kovacs, GG. (Ed.) Neuropathology of neurodegenerative diseases. A practical guide. Cambridge University Press; 2015.Google Scholar
Bartlett, JMS, Shaaban, A, Schmitt, F. (Eds.) Molecular Pathology. A practical guide for the surgical pathologist and cytopathologist. Cambridge University Press; 2015.CrossRefGoogle Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×