Turner syndrome other diagnostic studies: Difference between revisions
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==Overview== | ==Overview== | ||
The diagnostic study of choice for the diagnosis of [[Turner syndrome]] is [[karyotype]] analysis of 30 [[blood lymphocytes]]. Findings may include the classic [[45 XO karyotype]], [[mosaicism]] and structural anomalies like [[isochromosomes]] or [[ring chromosomes]]. | |||
==Other Diagnostic Studies== | ==Other Diagnostic Studies== | ||
===Karyotype analysis=== | |||
*The diagnostic study of choice for the diagnosis of [[Turner syndrome]] is [[karyotype]] analysis of 30 blood [[lymphocytes]]. | |||
*Findings may include the classic [[45 XO karyotype]], [[mosaicism]] and structural anomalies like [[isochromosomes]] or [[ring chromosomes]]. | |||
*If an abnormality associated with [[Turner syndrome]] is diagnosed by [[ultrasonography]] or if multiple marker screening is positive, the recommended follow-up is [[fetal karyotyping]] using [[amniotic fluid cells]] obtained by [[amniocentesis]] or fetal blood obtained by [[percutaneous]] [[umbilical]] blood sampling when the karyotype is needed more rapidly. | |||
*The karyotype does not determine the [[phenotype]]. | |||
*The standard 30 cell karyotype analysis should be performed if a single clinical feature (short stature, [[hydrops fetalis]], [[cystic hygroma]], characteristic facial features) or two commonly associated conditions ([[Madelung deformity]], [[cardiac]] or [[renal]] anomalies, [[multiple nevi]]) are seen. <ref name="pmid29344338">{{cite journal| author=Shankar RK, Backeljauw PF| title=Current best practice in the management of Turner syndrome. | journal=Ther Adv Endocrinol Metab | year= 2018 | volume= 9 | issue= 1 | pages= 33-40 | pmid=29344338 | doi=10.1177/2042018817746291 | pmc=5761955 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29344338 }} </ref> | |||
*In patients with [[virilization]] but absent Y [[chromosomal]] abnormalities on initial analysis, [[fluorescent in situ hybridization]] (FISH) or [[PCR]] techniques specific for cryptic Y material maybe performed. <ref name="pmid30560013">{{cite journal| author=Cui X, Cui Y, Shi L, Luan J, Zhou X, Han J| title=A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment. | journal=Intractable Rare Dis Res | year= 2018 | volume= 7 | issue= 4 | pages= 223-228 | pmid=30560013 | doi=10.5582/irdr.2017.01056 | pmc=6290843 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30560013 }} </ref> | |||
*Females with short stature and deletion of the distal region of the paternal X [[chromosome]] including the [[SHOX gene]] are generally not diagnosed with [[Turner syndrome]]. | |||
*Similarly, individuals with deletions of [[Xq24]], with primary or secondary [[amenorrhea]] and without short stature are diagnosed as [[premature ovarian failure]]. | |||
*Small deletions of the long arm of the X-[[chromosome]] distal to [[Xq24]] are not included in the diagnosis of [[Turner syndrome]]. <ref name="pmid12612263">{{cite journal| author=Frías JL, Davenport ML, Committee on Genetics and Section on Endocrinology| title=Health supervision for children with Turner syndrome. | journal=Pediatrics | year= 2003 | volume= 111 | issue= 3 | pages= 692-702 | pmid=12612263 | doi=10.1542/peds.111.3.692 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12612263 }} </ref> | |||
[[Image:FISH Turner Syndrome with SLE overlap.JPG|thumb|centre|500px|Fluorescence in situ hybridization (FISH) of Turner's syndrome/SLE overlap participant demonstrating 46,X,del(X)(q13) <ref name="pmid19458623">{{cite journal| author=Cooney CM, Bruner GR, Aberle T, Namjou-Khales B, Myers LK, Feo L | display-authors=etal| title=46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE. | journal=Genes Immun | year= 2009 | volume= 10 | issue= 5 | pages= 478-81 | pmid=19458623 | doi=10.1038/gene.2009.37 | pmc=2722751 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19458623 }} </ref>]] | |||
==References== | ==References== | ||
Latest revision as of 14:14, 15 September 2020
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Turner syndrome other diagnostic studies On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Akash Daswaney, M.B.B.S[2]
Overview
The diagnostic study of choice for the diagnosis of Turner syndrome is karyotype analysis of 30 blood lymphocytes. Findings may include the classic 45 XO karyotype, mosaicism and structural anomalies like isochromosomes or ring chromosomes.
Other Diagnostic Studies
Karyotype analysis
- The diagnostic study of choice for the diagnosis of Turner syndrome is karyotype analysis of 30 blood lymphocytes.
- Findings may include the classic 45 XO karyotype, mosaicism and structural anomalies like isochromosomes or ring chromosomes.
- If an abnormality associated with Turner syndrome is diagnosed by ultrasonography or if multiple marker screening is positive, the recommended follow-up is fetal karyotyping using amniotic fluid cells obtained by amniocentesis or fetal blood obtained by percutaneous umbilical blood sampling when the karyotype is needed more rapidly.
- The karyotype does not determine the phenotype.
- The standard 30 cell karyotype analysis should be performed if a single clinical feature (short stature, hydrops fetalis, cystic hygroma, characteristic facial features) or two commonly associated conditions (Madelung deformity, cardiac or renal anomalies, multiple nevi) are seen. [1]
- In patients with virilization but absent Y chromosomal abnormalities on initial analysis, fluorescent in situ hybridization (FISH) or PCR techniques specific for cryptic Y material maybe performed. [2]
- Females with short stature and deletion of the distal region of the paternal X chromosome including the SHOX gene are generally not diagnosed with Turner syndrome.
- Similarly, individuals with deletions of Xq24, with primary or secondary amenorrhea and without short stature are diagnosed as premature ovarian failure.
- Small deletions of the long arm of the X-chromosome distal to Xq24 are not included in the diagnosis of Turner syndrome. [3]
References
- ↑ Shankar RK, Backeljauw PF (2018). "Current best practice in the management of Turner syndrome". Ther Adv Endocrinol Metab. 9 (1): 33–40. doi:10.1177/2042018817746291. PMC 5761955. PMID 29344338.
- ↑ Cui X, Cui Y, Shi L, Luan J, Zhou X, Han J (2018). "A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment". Intractable Rare Dis Res. 7 (4): 223–228. doi:10.5582/irdr.2017.01056. PMC 6290843. PMID 30560013.
- ↑ Frías JL, Davenport ML, Committee on Genetics and Section on Endocrinology (2003). "Health supervision for children with Turner syndrome". Pediatrics. 111 (3): 692–702. doi:10.1542/peds.111.3.692. PMID 12612263.
- ↑ Cooney CM, Bruner GR, Aberle T, Namjou-Khales B, Myers LK, Feo L; et al. (2009). "46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE". Genes Immun. 10 (5): 478–81. doi:10.1038/gene.2009.37. PMC 2722751. PMID 19458623.