Eight cases of 7p deletion: clinical features, cytogenetic findings, and molecular studies

Chotai, K.A., Brueton, L., van Herwerden, L., and Winter, R.M. (1992) Eight cases of 7p deletion: clinical features, cytogenetic findings, and molecular studies. Journal of Medical Genetics, 29 (4). pp. 283-284.

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Abstract

[Extract] Craniosynostosis or premature closure of the cranial sutures is a common malformation occurring in approximately 1 in 2000 children. To date more than 20 cases of partial 7p monosomies have been described, approximately half of which have been associated with craniosynostosis. There is considerable variation in the size and location of the deleted segment.

Item ID: 27201
Item Type: Article (Abstract)
ISSN: 1468-6244
Keywords: craniosynostosis, premature closure, cranial sutures, malformation, children, partial 7p monosomies, size variation, deleted segment
Additional Information:

Abstracts of the Joint British Medical Genetics meeting organised by the Clinical Genetics Society and the Clinical Molecular Genetics Society held on 19 and 20 September 1991 at the University of Bristol

Date Deposited: 09 Jul 2013 04:39
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) @ 100%
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