Turner syndrome other diagnostic studies
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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.