The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p

Brueton, L.A., van Herwerden, L., Chotai, K.A., and Winter, R.M. (1992) The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. Journal of Medical Genetics, 29 (10). pp. 681-685.

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Abstract

Craniosynostosis or premature closure of the cranial sutures is a common abnormality occurring in about 1 in 2500 children. There is evidence of mendelian inheritance in some 20% of cases. Published reports of patients with structural alterations of the short arm of chromosome 7 have suggested that two or more genes for craniosynostosis may be situated in this region. The Saethre-Chotzen syndrome (acrocephalosyndactyly type III) is one of the most common autosomal dominant craniosynostosis syndromes. Results of molecular genetic linkage studies provide evidence for localisation of the gene responsible to distal chromosome 7p.

Item ID: 27408
Item Type: Article (Refereed Research - C1)
Keywords: craniosynostosis, premature closure of cranial sutures, common abnormality, children, mendelian inheritance, structural alterations, chromosome 7, two or more genes Saethre-Chotzen syndrome, acrocephalosyndactyly type III, common autosomal dominant craniosynostosis syndrome, genetic linkage, localisation, distal chromosome 7p
ISSN: 1468-6244
Date Deposited: 09 Jul 2013 03:52
FoR Codes: 11 MEDICAL AND HEALTH SCIENCES > 1103 Clinical Sciences > 110311 Medical Genetics (excl Cancer Genetics) @ 50%
11 MEDICAL AND HEALTH SCIENCES > 1114 Paediatrics and Reproductive Medicine > 111401 Foetal Development and Medicine @ 50%
SEO Codes: 92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920110 Inherited Diseases (incl. Gene Therapy) @ 50%
92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920116 Skeletal System and Disorders (incl. Arthritis) @ 50%
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