Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple

Tieneka M.Baker; Erica L.Sturm; Clesson E.Turner; Scott M.Petersen

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Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple

机译：在一对血缘病夫妇的Echogenic肾脏和多指影响连续怀孕的Bardet-Biedl综合征的诊断

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Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathic human genetic disorder with variable expression that is difficult to diagnose in pregnancy without known risk factors. Homozygosity testing has been shown to be a useful tool in identifying BBS mutations and candidate genes in affected individuals. We present the first case of prenatal diagnosis of BBS in consecutive pregnancies aided by homozygosity testing via SNP microarray analysis. This case demonstrates a novel approach to the evaluation of recurrent echogenic kidneys in consanguineous couple with no significant family history.

机译：Bardet-Biedl综合征（BBS）是一种常染色体隐性遗传病的人类遗传性疾病，具有可变表达，如果没有已知的危险因素，则很难在妊娠中进行诊断。纯合性测试已被证明是鉴定受影响个体中BBS突变和候选基因的有用工具。我们通过连续性妊娠通过SNP芯片分析进行纯合性测试，介绍了连续妊娠中BBS的产前诊断的第一例。这个案例展示了一种新颖的方法来评估近亲夫妇中没有明显家族史的复发性回声肾脏。

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《Case Reports in Genetics》 |2013年第2期|共3页
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Tieneka M.Baker; Erica L.Sturm; Clesson E.Turner; Scott M.Petersen;
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4. The Influence of Chronic Kidney Disease, Apoptosis and Inflammatory Biomarkers on the Diagnosis, Prognosis and Management of Acute Coronary Syndromes. [D] . Cardinal, Heloise. 2012

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5. Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple [O] . Tieneka M. Baker, Erica L. Sturm, Clesson E. Turner, 2013

机译：伴有血源性肾脏和多指的连续妊娠Bardet-Biedl综合征的诊断
6. Prenatal diagnosis of pseudothalidomide syndrome in consecutive pregnancies of a consanguineous couple [O] . B. M. Petrikovsky, B. Gross, M. Bialer, 1997

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Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple

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