Why are microdeletions and microinsertions difficult to diagnose

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cytogenetics report for g-banded karyotype

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Cytogenetics Report For G-Banded Karyotype

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cytogenetics report for g-banded karyotype

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Why are microdeletions and microinsertions difficult to diagnose

Chromosome type:Acrocentric.Name: SherryCase Study ID: KAge:23Why is the patient being referred to karyotyping?

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Source of Cells for karyotyping:

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Why do few chromosomal trisomies survive to birth?

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Why are microdeletions and micro insertions difficult to diagnose with karyotyping?

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Chromosome type:Metacentric.Name:PatriciaCase Study ID:LAge:40Why is the patient being referred to karyotyping?

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Why do few chromosomal trisomies survive to birth?

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Why are microdeletions and micro insertions difficult to diagnose with karyotyping?

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Chromosome Type: Acrocentric.Name:NadiaCase Study ID:OAge:39Why is the patient being referred to karyotyping?

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Source of Cells for karyotyping:PlacentaTotal number of chromosomes observed:46Gender:FemaleChromosomal Findings:No Abnormalities.Patient Diagnosis:N/AHow is a karyotype prepared:

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Why do few chromosomal trisomies survive to birth?

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Why are microdeletions and micro insertions difficult to diagnose with karyotyping?

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Chromosome Type:Submetacentric.

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What are three problems that can be detected through karyotyping?

You may also need a karyotype test if you have symptoms of or have been diagnosed with leukemia, lymphoma, or myeloma, or a certain type of anemia. These disorders can cause chromosomal changes. Finding these changes can help your provider diagnose, monitor, and/or treat the disease.

What are Microdeletions?

Microdeletions, or submicroscopic deletions, are chromosomal deletions that are too small to be detected by light microscopy using conventional cytogenetic methods. Specialized testing is needed to identify these deletions. Microdeletions are typically 1 to 3 Mb long and involve several contiguous genes.

Why do deletions and duplications have less detrimental effect on the individual's phenotype?

Small deletions and duplications are less likely to have a detrimental effect on phenotype because the smaller a deletion or duplication the less likely that it contains genes vital to a normal phenotype.

How can you use a karyotype to diagnose a disease?

Karyotypes can reveal changes in chromosome number associated with aneuploid conditions, such as trisomy 21 (Down syndrome). Careful analysis of karyotypes can also reveal more subtle structural changes, such as chromosomal deletions, duplications, translocations, or inversions.