Using SNP microarray to distinguish mosaicism from chimerism in a phenotypically normal male newborn with prenatal 46,XX/46,XY karyotype [0.03%]
采用SNP芯片鉴别表型正常的新生儿的嵌合体及嵌合体状态
Jo-Ching Chen,Pen-Hua Su,Yiin-Jeng Jong et al.
Jo-Ching Chen et al.
Background: The coexistence of 46,XX/46,XY cells in cultured amniotic fluid sample is not uncommon. The vast majority of these cases are the result of contamination by maternal cells in an otherwise normal male fetus. How...
Previously unreported translocation (14;15)(q32; q11.2) observed in B-cell acute lymphoblastic leukemia: a case report [0.03%]
B细胞急性淋巴细胞白血病中先前未报道的t（14;15）（q32;q11.2）：病例报告
Maliha Naz,Jawad Hassan,Neelum Mansoor
Maliha Naz
t(14;15) have rarely been seen in hematologic malignancies. Here we have reported a case of a 4-year-old male who presented with low grade fever and body aches and, was diagnosed on immunophenotyping as B-cell Acute Lymphoblastic Leukemia. ...
Clinical presentation and genotype-phenotype correlation of a novel pure duplication of 6p25.2-p22.3: a case report and literature review [0.03%]
6p25.2-p22.3全新重复序列的临床表现及基因型表型相关性：1例报道及文献复习
Huamei Tang,Xiaoqing Xu,Wei Wu et al.
Huamei Tang et al.
Duplication of 6p is a rare genetic syndrome of which about 25% have one or more congenital cardiac defects including cardiac septal defects, pulmonary artery hypoplasia and patent ductus arteriosus. We present the first case of a fetus wit...
Identification of tubulin gene variants in patients with dandy-walker malformation: expanding the spectrum of tubulinopathies [0.03%]
识别Dandy-Walker畸形患者中的微管蛋白基因变异：扩展了微管相关疾病的范围
Katsuya Ueno,Koichiro Higasa,Mikio Hayashi et al.
Katsuya Ueno et al.
Dandy-Walker malformation (DWM) is a condition characterized by a cyst in the posterior cranial fossa contiguous with the fourth ventricle, combined with complete or partial agenesis of the cerebellar vermis; and elevation of the cerebellar...
Molecular cytogenetics provides insights into heterochromatin composition and karyotypic evolution in species of the Plebeia group (Apidae: Meliponini) [0.03%]
分子细胞遗传学为切叶蜜蜂属后部组物种异染色质组成和核型进化提供见解
Cristiano Lula Campos,Gisele Amaro Teixeira,Denilce Meneses Lopes et al.
Cristiano Lula Campos et al.
Background: The Plebeia group, including Plebeia, Lestrimelitta, and Friesella, requires clearer taxonomic resolution. Plebeia is the polyphyletic: species in clade II are more closely related to Friesella and Lestrimelit...
A fetus with paternal uniparental isodisomy of chromosome 3: genetic analysis and prenatal diagnosis following a positive NIPS with IUGR [0.03%]
染色体3父系单亲二倍体胎儿的产前诊断及家系遗传学分析（一项NIPT阳性伴胎儿生长受限的咨询）
Fang Zhang,ShanShan Ma,Yongan Wang et al.
Fang Zhang et al.
Objective: To report a rare prenatal case of paternal uniparental isodisomy of chromosome 3 (upd(3)pat) associated with isolated intrauterine growth restriction (IUGR). ...
Combined optical genome mapping and cnv-seq identify complex Y-chromosome rearrangements and ectopy in 46,XX testicular disorder of sex development [0.03%]
光学基因组测序联合cnv-seq识别出复杂的Y染色体重组及46，XX睾丸性别发育障碍中的异位现象
Hai Wang,Hao Wang,Zitong Xu et al.
Hai Wang et al.
Objective: To define the genomic architecture of Y‑chromosome ectopy in a child with 46,XX testicular disorders of sex development (DSD) and illustrate the complementary roles of low‑coverage CNV sequencing (CNV‑seq) a...
Chromosomal abnormalities and copy number variations in fetuses with ventriculomegaly: a multicenter retrospective study [0.03%]
胎儿脑室增宽的染色体异常及拷贝数变异的多中心回顾性研究
Anh Huu Duc Nguyen,Phan Duc Tran,Phuc Hong Dinh et al.
Anh Huu Duc Nguyen et al.
Background: This study aimed to analyze chromosomal characteristics and copy number variations (CNVs) in fetuses with ventriculomegaly (VM), thereby comparing genetic features between the isolated VM group and the non-iso...
Optical genome mapping uncovers disease-defining variants in an adult T-lymphoblastic leukemia and impacts prognosis [0.03%]
光学基因组映射揭示了成人T淋巴母细胞白血病中的疾病定义变异并影响预后
Amanda M Maxfield,Michelle A Bickford,Kyle A Tonseth et al.
Amanda M Maxfield et al.
Background: Adult T-lymphoblastic leukemia often harbors cryptic structural variants that remain undetected by standard cytogenetic and targeted molecular testing, limiting precise risk stratification and therapeutic plan...
Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 5p13.3p13.2 microduplication in a Chinese family [0.03%]
中国家系中父系遗传的5号染色体短臂p13.3p13.2片段重复的产前诊断及遗传咨询
Wei Wang,Lin Zhan,Lu Xu et al.
Wei Wang et al.
Background: Copy number variants (CNVs) represent a significant source of genomic diversity, encompassing both benign and pathogenic variations. The accurate interpretation of CNVs identified during prenatal diagnosis is ...