tailieunhanh - Báo cáo y học: " Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài:Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report | JOURNAL OF MEDICAL Sr CASE REPORTS Open Access Case report Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray a case report Matthew B Lanktree1 I George Fantus2 and Robert A Hegele1 Addresses 1Blackburn Cardiovascular Genetics Laboratory Room 4-07 Robarts Research Institute University of Western Ontario London Ontario N6A 5K8 Canada 2Mount Sinai Hospital Lebovic Building Rm 5-028 University of Toronto Toronto Ontario M5T 3L9 Canada Email MBL - mlanktre@ IGF - gfantus@ RAH - hegele@ Corresponding author Received 12 June 2008 Accepted 16 March 2009 Published 12 August 2009 Journal of Medical Case Reports 2009 3 8867 doi 1752-1947-3-8867 This article is available from http jmedicalcasereports article view 8867 2009 Lanktree et al. licensee Cases Network Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Introduction Patients with lipodystrophy experience selective or generalized atrophy of adipose tissue. The disruption of lipid metabolism results in an increased risk for development of metabolic syndrome and coronary artery disease. Currently the mutations responsible for approximately half of lipodystrophy patients are known but new techniques and examination of different types of genetic variation may identify new disease-causing mechanisms. Case presentation A 53-year-old woman of African descent was referred to a tertiary care endocrinology clinic for treatment of severe insulin resistance treatment-resistant hypertension and dyslipidemia. After all known lipodystrophy-causing mutations were excluded by DNA sequencing the patient was found to have triple X syndrome after an initial investigation into copy number .

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