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TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
IF2.2
论文数237
被引数
期刊论文 237
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Incidental detection of a familial 2q13 microduplication encompassing MALL and NPHP1 and a 16p13.11 microdeletion encompassing NDE1 and MYH11 in a 30-year-old woman with no apparently phenotypic abnormality during preconception counseling在孕前咨询期间，一名30岁女性意外检测到家族性2q13微重复（包含MALL和NPHP1基因）和16p13.11微缺失（包含NDE1和MYH11基因），且无明显表型异常.png)
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OAAI分享收藏Low-level concomitant mosaic trisomy 13 and mosaic trisomy 22 (47,XY,+13/47,XY,+22/46.XY) at amniocentesis in a pregnancy associated with perinatal progressive decrease of the aneuploid cell lines, a favorable outcome and complete perinatal cytogenetic discrepancy in various tissues产前诊断中发现的低水平并发嵌合体13三体和嵌合体22三体（47,XY,+13/47,XY,+22/46,XY），伴随围产期非整倍体细胞系的进行性减少、良好预后及各组织中完全的围产期细胞遗传学差异OAAI分享收藏
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Low-level mosaic trisomy 21 at chorionic villus sampling, amniocentesis and cordocentesis in a pregnancy associated with positive non-invasive prenatal testing for trisomy 21 and normal karyotype in the peripheral blood and normal molecular cytogenetic results in the buccal mucosal cells at age 71/2 months in the neonate with a favorable fetal outcome低水平嵌合体三体21在绒毛取样、羊膜穿刺和脐带穿刺中的检测，与妊娠相关的非侵入性产前检测为三体21阳性，外周血核型正常，以及新生儿出生后7个月半颊黏膜细胞分子细胞遗传学结果正常，胎儿结局良好OAAI分享收藏
OAAI分享收藏Low-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with positive non-invasive prenatal testing for Turner syndrome, postnatal progressive decrease of the 45,X cell line and a favorable fetal outcome产前非侵入性产前检测显示特纳综合征阳性的妊娠中，羊水穿刺检出45,X/46,XX嵌合体及低水平45,X嵌合现象，出生后45,X细胞系比例逐渐减少且胎儿结局良好OAAI分享收藏
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