Down syndrome laboratory findings: Difference between revisions
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{{Down syndrome}} | {{Down syndrome}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{SH}} | ||
==Overview== | ==Overview== | ||
==Laboratory Findings== | ==Laboratory Findings== | ||
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***Interphase fluorescence in situ hybridization is used for early and rapid detection of trisomy 21 | ***Interphase fluorescence in situ hybridization is used for early and rapid detection of trisomy 21 | ||
***The FISH test is beneficial in the diagnosis of Down syndrome in prenatal and neonatal period | ***The FISH test is beneficial in the diagnosis of Down syndrome in prenatal and neonatal period | ||
***The FISH test needs to be confirmed by a complete karyotype analysis as it does not provide information about the trisomy 21 | ***The FISH test needs to be confirmed by a complete karyotype analysis as it does not provide information about the trisomy 21 to weather if it is secondary to a translocation | ||
==References== | ==References== | ||
Revision as of 22:32, 20 March 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dildar Hussain, MBBS [2]
Overview
Laboratory Findings
- The following lab tests are done for the patients of Down syndrome to rule out conditions associated with down syndrome:[1][2]
- CBC with differentials to rule out Leukemia
- To rule out hypothyroid, the following tests are performed at birth, 6 months, 1 year and then annually:
- TSH
- T4
- Cytogenetic studies
- Cytogenetic studies are performed for the confirmation of down syndrome
- Karyotyping must be performed to determine the risk of recurrence
- Measurement of Immunoglobulin G
- Subsequent low level of IgG subclass 4 are correlated with bacterial infections
- The Mosaic trisomy 21 that includes:
- Lymphocyte preparations
- FISH
- Buccal mucosa cellular preparations
- Scoring frequency of trisomic cells
- Interphase fluorescence in situ hybridization (FISH)
- Interphase fluorescence in situ hybridization is used for early and rapid detection of trisomy 21
- The FISH test is beneficial in the diagnosis of Down syndrome in prenatal and neonatal period
- The FISH test needs to be confirmed by a complete karyotype analysis as it does not provide information about the trisomy 21 to weather if it is secondary to a translocation
References
- ↑ Ringman JM, Rao N, Lu PH, Cederbaum S. Mosaicism for trisomy 21 in a patient with young-onset dementia. A case report and brief literature review. Arch Neurol. 2008. 65:412-415.
- ↑ Papavassiliou, Paulie; York, Timothy P.; Gursoy, Nurcan; Hill, Gloria; Nicely, Lauren Vanner; Sundaram, Usha; McClain, Allison; Aggen, Steven H.; Eaves, Lindon; Riley, Brien; Jackson-Cook, Colleen (2009). "The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues". American Journal of Medical Genetics Part A. 149A (4): 573–583. doi:10.1002/ajmg.a.32729. ISSN 1552-4825.