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Spondylocostal dysostosis associated with a 46, XX,+15,dic(6;15)(q25;q11.2) translocation.

Crow YJ, Tolmie J, Rippard K, Nairn L, Wilkinson A, Turner T

Clin Dysmorphol. 1997;6( 4):347-50.

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Abstract

We describe a female neonate with spondylocostal dysostosis and a translocation resulting in monosomy for the region 6q25-->qter and trisomy for the region 15q11.1-->pter. The finding of a Mendelian disorder with a chromosomal abnormality may help in the localization of the gene(s) involved in this disease.

Bibliographic metadata

Type of resource:
Content type:
Publication type:
Published date:
Journal title:
ISSN:
Place of publication:
ENGLAND
Volume:
6( 4)
Start page:
347
End page:
50
Pagination:
347-50
Access state:
Active

Institutional metadata

University researcher(s):

Record metadata

Manchester eScholar ID:
uk-ac-man-scw:1d32421
Created:
2nd September, 2009, 14:26:14
Last modified:
3rd March, 2010, 18:56:33

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