False Negative Carrier Screening in Spinal Muscular Atrophy

被引：3

作者：

Butcher, Sophie ^{[1
]}

Smith, Melanie ^{[2
,3
]}

Woodcock, Ian R. ^{[3
,4
,5
]}

Delatycki, Martin ^{[2
,3
,5
]}

Ryan, Monique M. ^{[3
,4
,5
]}

Forbes, Robin ^{[2
,3
,4
]}

机构：

[1] Royal Childrens Hosp, Melbourne, Vic, Australia

[2] Victorian Clin Genet Serv, Melbourne, Vic, Australia

[3] Murdoch Childrens Res Inst, Melbourne, Vic, Australia

[4] Royal Childrens Hosp, Dept Neurol, Melbourne, Vic, Australia

[5] Univ Melbourne, Melbourne, Vic, Australia

来源：

JOURNAL OF CHILD NEUROLOGY | 2020年 / 35卷 / 04期

关键词：

spinal muscular atrophy; SMA; carrier screening; false negative tests; SMN1; DUPLICATION;

D O I：

10.1177/0883073819891269

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe a case of spinal muscular atrophy diagnosed in an infant despite previous parental carrier testing suggesting low risk of the disease. This case report explains how this situation arose and illustrates that clinicians need to perform diagnostic testing in children where clinical suspicion for spinal muscular atrophy is high, regardless of the result of previous parental carrier testing, because of the risk of false negative results.

引用

页码：274 / 277

页数：4

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