Cytogenetic Abnormalities: Chromosomal, FISH, and by Susan Mahler Zneimer

By Susan Mahler Zneimer

This advisor discusses chromosomal abnormalities and the way most sensible to record and speak lab findings in examine and medical settings. delivering a typical method of writing cytogenetic laboratory studies, the advisor additional covers precious assistance on enforcing overseas procedure for Human Cytogenetic Nomenclature in studies. half one of many advisor explores chromosomal, FISH, and microarray research in constitutional cytogenetic analyses, whereas half seems to be at received abnormalities in cancers. either sections supply illustrative examples of chromosomal abnormalities and the way to speak those findings in standardized laboratory experiences.

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Additional resources for Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting and Interpretation of Result

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Example reporting of a diminished size of the heterochromatin region on the Y chromosome ISCN Result: 46,XYqh− Normal Male Karyotype Interpretation Chromosome analysis revealed a normal male chromosome complement in all 20 cells examined. However, a very small heterochromatic region in the long arm of the Y chromosome was observed in all cells examined. A specific banding technique (C-banding) was performed to verify that this DNA material does not result in a deletion of euchromatin, which might result in loss of DNA coding genes.

There was no evidence of a chromosome abnormality within the limits of the current technology. Example reporting of normal male AF results ISCN Result: 46,XY Normal Male Karyotype Interpretation Chromosome analysis revealed a normal male chromosome complement in all 15 colonies examined from multiple cultures of amniocytes. There was no evidence of a chromosome abnormality within the limits of the current technology. Chapter 1: Components of a standard cytogenetics report, normal results and culture failures / 19 When only one tube of amniotic fluid is received, some laboratories may add the following comment to the interpretation.

9 Example reporting of a variant pericentric inversion ISCN Result: 46,XX,inv(9)(p12q13) Normal Female Karyotype Interpretation Chromosome analysis revealed a normal female chromosome complement in all 20 cells examined. However, a pericentric inversion of chromosome 9 was present in all cells. This rearrangement is considered a normal variant in the population with no known clinical significance. 5). The stalk region contains DNA that codes for ribosomal RNA (rRNA) and is described as the nuclear organizer region (NOR).

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