脊椎肋骨发育不良伴46, XX, +15, dic(6;15)(q25;q11.2)易位。

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

作者信息

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

机构信息

Department of Medical Genetics, Royal Hospital for Sick Children, Yorkhill Hospitals NHS Trust, Glasgow, UK.

出版信息

Clin Dysmorphol. 1997 Oct;6(4):347-50. doi: 10.1097/00019605-199710000-00008.

DOI:10.1097/00019605-199710000-00008

PMID:9354844

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.

摘要

我们描述了一名患有脊椎肋骨发育不良并伴有易位的女性新生儿，该易位导致6q25至qter区域单体性和15q11.1至pter区域三体性。一种孟德尔疾病伴有染色体异常的发现可能有助于确定参与该疾病的基因的定位。