Turner syndrome other diagnostic studies: Difference between revisions

Jump to navigation Jump to search
No edit summary
No edit summary
 
(4 intermediate revisions by the same user not shown)
Line 3: Line 3:
{{CMG}}{{AE}}{{Akash}}
{{CMG}}{{AE}}{{Akash}}
==Overview==
==Overview==
There are no other diagnostic studies associated with [disease name].


OR
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]].
 
[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==
==Other Diagnostic Studies==


There are no other diagnostic studies associated with [disease name].
===Karyotype analysis===
 
OR
 
[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include:
*[Finding 1]
*[Finding 2]
*[Finding 3]


OR
*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>


Other diagnostic studies for [disease name] include:
[[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>]]
*[Diagnostic study 1], which demonstrates:
**[Finding 1]
**[Finding 2]
**[Finding 3]
*[Diagnostic study 2], which demonstrates:  
**[Finding 1]
**[Finding 2]
**[Finding 3]


==References==
==References==

Latest revision as of 14:14, 15 September 2020

Turner syndrome Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Turner syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

Echocardiography and Ultrasound

CT

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Interventions

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Turner syndrome other diagnostic studies On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Turner syndrome other diagnostic studies

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Turner syndrome other diagnostic studies

CDC on Turner syndrome other diagnostic studies

Turner syndrome other diagnostic studies in the news

Blogs on Turner syndrome other diagnostic studies

Directions to Hospitals Treating Turner syndrome

Risk calculators and risk factors for Turner syndrome other diagnostic studies

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

Fluorescence in situ hybridization (FISH) of Turner's syndrome/SLE overlap participant demonstrating 46,X,del(X)(q13) [4]

References

  1. 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.
  2. 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.
  3. 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.
  4. 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.


Template:WikiDoc Sources