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==Other Diagnostic Studies== | ==Other Diagnostic Studies== | ||
==Karyotype analysis== | |||
*Thee 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> | |||
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==References== | ==References== | ||
Revision as of 20:22, 17 August 2020
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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
There are no other diagnostic studies associated with [disease name].
OR
[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].
Other Diagnostic Studies
Karyotype analysis
- Thee 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.