By Susan Mahler Zneimer
This consultant discusses chromosomal abnormalities and the way top to document and converse lab findings in learn and scientific settings. supplying a customary method of writing cytogenetic laboratory studies, the consultant extra covers invaluable assistance on imposing overseas process for Human Cytogenetic Nomenclature in reviews. half one of many consultant explores chromosomal, FISH, and microarray research in constitutional cytogenetic analyses, whereas half appears at obtained abnormalities in cancers. either sections offer illustrative examples of chromosomal abnormalities and the way to speak those findings in standardized laboratory stories.
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Additional resources for Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting and Interpretation of Result
Approximately 1–2% of CVS specimens show MCC. One can estimate this amount to be 2–4%, considering the equal likelihood of having MCC in female fetuses that are not distinguishable. In CVS, the incidence of MCC is higher in cultured specimens than in direct preparations, making direct preparations an advantage for this purpose alone. However, for complete chromosome analysis, cultured specimens are preferred due to the better quality of chromosome morphology. The literature also reports a higher incidence of MCC in transcervical CVS versus the transabdominal method.
Then write the sex chromosome complement. Therefore, normal results would be either 46,XX or 46,XY for a female or male, respectively. Notice that punctuation is very important in cytogenetic nomenclature. All chromosome numbers are followed by a comma and no spaces are used to separate chromosome number from sex chromosome content. For all cytogenetic results that require a description of a variant (polymorphism) or an abnormality, chromosomes are broken down into regions for unique identification.
30 / Chapter 1: Components of a standard cytogenetics report, normal results and culture failures ■■ Consultation with a clinical geneticist or cytogeneticist is suggested to determine if these findings address the clinical indication of the patient. ■■ As regulatory agencies require that follow-up information on all prenatal studies be correlated with laboratory findings, please provide the outcome information at the time of delivery or termination. ■■ Submit a specimen at the outcome of this pregnancy for cytogenetic confirmation as a quality control laboratory monitor (at no additional charge).
Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting and Interpretation of Result by Susan Mahler Zneimer