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
收藏
页码：420 / 424
页数：5
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