Indications for chromosome analysis to diagnose Turner syndrome

As the only clinical feature:

Fetal cystic hygroma, or hydrops, especially when severe

Idiopathic short stature

Obstructive left-sided congenital heart defect*

Unexplained delayed puberty/menarche

Couple with infertility

Characteristic facial features in a female^¶

At least two of the following:

Renal anomaly (horseshoe, absence, or hypoplasia)

Madelung deformity

Neuropsychologic problems, and/or psychiatric issues

Multiple typical or melanocytic nevi

Dysplastic or hyperconvex nails

Other congenital heart defects^Δ

Hearing impairment <40 years of age together with short stature

* Typically bicuspid aortic valve, coarctation, aortic stenosis (with/without bicuspid aortic valve), mitral valve anomalies, and hypoplastic left heart syndrome.
¶ Down-slanted palpebral fissures, epicanthal folds, low-set anomalous pinnae, micrognathia, narrow palate, short broad neck, and webbing.
Δ Partial anomalous pulmonary venous return; atrial septal defect, secundum type; and ventricular septal defects, muscular or membranous.

Reproduced with permission from: Gravholt CH, Andersen NH, Conway GS, etc. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol 2017; 177:G1. Copyright © 2017 BioScientifica Ltd. All rights reserved.

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Indications for chromosome analysis to diagnose Turner syndrome