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GTR Home > Tests > Treacher Collins syndrome 1, 154500, Autosomal dominant; TCS1 (Treacher-Collins syndrome) (Prenatal) (MLPA)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from GeneReviews

Treacher Collins syndrome (TCS) is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and mandible can cause significant feeding and respiratory difficulties. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically intellect is normal.

Conditions tested

Target population

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Treacher Collins syndrome 1, 154500, Autosomal dominant; TCS1 (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

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Clinical validity

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Clinical utility

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