Rare case of live born with confirmed mosaic trisomy 17 and review of the literature

被引：10

作者：

Baltensperger, Austin ^{[1
]}

Haischer, Gayle ^{[2
]}

Rohena, Luis ^{[1
]}

机构：

[1] San Antonio Mil Med Ctr, Dept Pediat, 3551 Roger Brooke Dr, Ft Sam Houston, TX 78234 USA

[2] Naval Med Ctr Portsmouth, 620 John Paul Jones Cir, Portsmouth, VA 23708 USA

来源：

CLINICAL CASE REPORTS | 2016年 / 4卷 / 04期

关键词：

Aneuploidy; mosaic; Trisomy; 17;

D O I：

10.1002/ccr3.397

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Key Clinical MessageThis article describes both previously reported as well as new phenotypic features in a trisomy 17 mosaic patient. The gold standard for postnatal diagnosis remains fibroblast analysis, though the level of mosaicism does not correlate with prognosis. A normal ultrasound in the setting of positive amniocentesis appears a reassuring indicator.

引用

页码：420 / 424

页数：5

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