Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study [0.03%]
染色体微阵列分析在产前诊断单亲二倍体中的应用：一项回顾性研究
Chenxia Xu,Miaoyuan Li,Tiancai Gu et al.
Chenxia Xu et al.
Background: Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD). This retrospective study examines fetuses undergoing invasive prenatal d...
Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study [0.03%]
遗传变异对单胎和双胞胎胎儿先天性心脏病的贡献：一项中国队列研究
Shaobin Lin,Shanshan Shi,Jian Lu et al.
Shaobin Lin et al.
Background: The contribution of genetic variants to congenital heart defects (CHDs) has been investigated in many postnatal cohorts but described in few prenatal fetus cohorts. Overall, specific genetic variants especiall...
Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review [0.03%]
两例产前发现的胎儿宫内生长迟缓合并六号染色体母系单亲二倍体：病例分析及文献回顾
Yan Jiang,Yang Xue Xiao,Jiao Jiao Xiong et al.
Yan Jiang et al.
Background: Uniparental disomy (UPD) is a rare genetic condition leading to potential disease risks. Maternal UPD of chromosome 6 upd(6)mat is exceptionally rare, with limited cases reported. This study reported two new c...
Ning Huang,Jihui Zhou,Wan Lu et al.
Ning Huang et al.
Background: Individuals with X chromosomal translocations, variable phenotypes, and a high risk of live birth defects are of interest for scientific study. These characteristics are related to differential breakpoints and...
Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses [0.03%]
四种胎儿嵌合型染色体非整倍体及单亲二倍体的产前诊断及临床结局评估
Shengfang Qin,Xueyan Wang,Jin Wang et al.
Shengfang Qin et al.
Background: Few co-occurrence cases of mosaic aneuploidy and uniparental disomy (UPD) chromosomes have been reported in prenatal periods. It is a big challenge for us to predict fetal clinical outcomes with these chromoso...
Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency [0.03%]
1例短身材和轻度精神发育迟缓女性患者的Xq23-q26.3反向串联重复序列异常拷贝数变异的精细定位研究
Shengfang Qin,Jiuzhi Zeng,Jin Wang et al.
Shengfang Qin et al.
Background: Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a wide range of physical findings. Female carriers usually have no clini...
Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere [0.03%]
prenatal识别带有新着丝点的13q标记染色体倒位重复
Liselot van der Laan,Daniel R Hoekman,Esther J Wortelboer et al.
Liselot van der Laan et al.
In this case report, we describe a rare prenatal finding of a small marker chromosome. This marker chromosome corresponds to an inverted duplication of the 13q region 13q31.1q34 (or 13q31.1 → qter) with a neocentromere, detected during gen...
Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement [0.03%]
脂肪母细胞瘤染色体碎裂综合征的第二例报告伴有复杂的PLAG1重排
Joel Lanceta,Joseph Tripodi,Lynne Karp et al.
Joel Lanceta et al.
Lipoblastomas (LPBs) are rare benign neoplasms derived from embryonal adipose that occur predominantly in childhood. LPBs typically present with numeric or structural rearrangements of chromosome 8, the majority of which involve the pleomor...
Renata Woroniecka,Grzegorz Rymkiewicz,Zbigniew Bystydzienski et al.
Renata Woroniecka et al.
Background: Richter transformation (RT) is the development of aggressive lymphoma in patients with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL). This rare disease is characterised by dismal progn...
Prenatal diagnosis and perinatal outcomes of twin pregnancies disharmonious for one fetus with nuchal translucency above the 95th percentile [0.03%]
产前诊断及一胎NT增厚的双胎妊娠围生期结局分析
You Wang,Hang Zhou,Fang Fu et al.
You Wang et al.
Objective: To assess prenatal diagnosis and pregnancy outcomes in twin pregnancies where one fetus has nuchal translucency (NT) above the 95th percentile. ...