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荷属加勒比地区的临床与社区遗传学服务。

Clinical and community genetics services in the Dutch Caribbean.

作者信息

Verberne Eline A, Ecury-Goossen Ginette M, Manshande Meindert E, Ponson-Wever Maria, de Vroomen Maartje, Tilanus Martijn, Mannens Marcel M A M, Henneman Lidewij, van Haelst Mieke M

机构信息

Department of Clinical Genetics and Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Department of Pediatrics, Curaçao Medical Center, Willemstad, Curaçao.

出版信息

J Community Genet. 2021 Jul;12(3):497-501. doi: 10.1007/s12687-021-00515-6. Epub 2021 Mar 10.

DOI:10.1007/s12687-021-00515-6
PMID:33751485
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7943254/
Abstract

The Caribbean part of the Kingdom of the Netherlands consists of six islands: Aruba, Bonaire, Curaçao, St. Maarten, St. Eustatius, and Saba. Because of their small size and relative remoteness, they face several economic and healthcare challenges, including limited access to genetics services. In this article, we provide an overview of the clinical and community genetics services that are available in the Dutch Caribbean. In particular, we describe our joint pediatric-genetics clinic with a visiting clinical geneticist that was established in 2011 to provide clinical genetics services for the pediatric population of the Dutch Caribbean.

摘要

荷兰王国的加勒比地区由六个岛屿组成

阿鲁巴、博内尔、库拉索、圣马丁、圣尤斯特歇斯和萨巴。由于面积小且相对偏远,它们面临着若干经济和医疗保健挑战,包括获得遗传学服务的机会有限。在本文中,我们概述了荷属加勒比地区现有的临床和社区遗传学服务。特别是,我们描述了我们与一位来访临床遗传学家于2011年设立的联合儿科遗传学诊所,该诊所为荷属加勒比地区的儿科人群提供临床遗传学服务。

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本文引用的文献

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Estimated incidence of sickle-cell disease in Aruba and St. Maarten suggests cost-effectiveness of a universal screening programme for St. Maarten.
West Indian Med J. 2009 Sep;58(4):301-4.
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The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the Afro-Caribbean population of the Netherlands Antilles: a family screening.
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Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.荷属安的列斯群岛遗传性出血性毛细血管扩张症家族中的两种常见内皮糖蛋白突变:奠基者效应的证据。
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