J Med Genet. 1996 Jul;33(7):603-6.

Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging.

Edwards SJ, Fowlie A, Cust MP, Liu DT, Young ID, Dixon MJ.

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School of Biological Stlences, University of Manchester, UK.

Abstract

Treacher Collins syndrome is an autosomal dominant disorder of facial development, the features of which include conductive hearing loss and cleft palate. In the current investigation, linkage analysis has been used to make first trimester diagnostic predictions in a pregnancy at high risk of producing an affected child. The results of this analysis predicted that the child would be affected. As predictions of the severity of the disease were not possible, the pregnancy was also assessed by ultrasound imaging. This confirmed the affected diagnosis and predicted that the child would be severely affected.

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The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. [Am J Hum Genet. 1991]
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Dixon MJ, Read AP, Donnai D, Colley A, Dixon J, Williamson R. Am J Hum Genet. 1991 Jul; 49(1):17-22.
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Cited by 4 PubMed Central articles

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