The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

Abstract:

:Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. We have studied 12 unrelated TCS families with multiple affected individuals for linkage to five chromosome 5 markers. There is strong evidence demonstrating linkage to three of these markers. Multipoint linkage analysis places the mutation causing TCS in the interval between the gene for the glucocorticoid receptor and the anonymous marker D5S22, with a maximum multipoint lod score of 9.1.

journal_name

Am J Hum Genet

authors

Dixon MJ,Read AP,Donnai D,Colley A,Dixon J,Williamson R

subject

Has Abstract

pub_date

1991-07-01 00:00:00

pages

17-22

issue

1

eissn

0002-9297

issn

1537-6605

journal_volume

49

pub_type

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