A ten-year follow up case report on monochorionic dizygotic twins with confined blood chimerism of 47,XY,+21/46,XX [0.03%]
一例47,XY,+21/46,XX染色体限制性血 chimera偶合双胎的十年随访报告
Mengjie Shen,Huaying Ren,Ting Chen et al.
Mengjie Shen et al.
Background: Only ten patients with both trisomy 21 and normal karyotypes have been documented, including four singleton patients and three sets of twins. Among these twins, two were monochorionic dizygotic: one pair was t...
Prenatal diagnosis, genetic analysis, and pregnancy outcomes of fetuses with mosaic isodicentric Y chromosomes [0.03%]
嵌合型等臂Y染色体胎儿的产前诊断、遗传学分析及妊娠结局研究
Tieli Gao,Hua Wei,Yawen Zheng et al.
Tieli Gao et al.
Background: Isodicentric Y chromosomes [idic(Y)] are frequently detected in patients with disorders of sex development (DSDs). However, prenatal cases are rarely reported. We performed comprehensive prenatal diagnostic ev...
Antenatal discovery of mosaic trisomy 14 in an early-onset malformative syndrome [0.03%]
产前发现早发畸形综合征伴14号染色体嵌合性三体病例报告
Romain Martineau,Florent Fuchs,Audrey Lamouroux et al.
Romain Martineau et al.
Trisomy 14 mosaicism is a rare chromosomal disorder caused by the presence of an extra chromosome 14 in a subset of cells. Its true prevalence is unclear due to frequent early pregnancy loss. Clinical manifestations vary widely and include ...
Disheveled associated activator of morphogenesis 2 variants may produce alport-like changes: a case report [0.03%]
紊乱的形态发生激活剂2变异体可能产生Alport样改变：病例报告
Danhua Yang,Han Chen,Zhenliang Fan et al.
Danhua Yang et al.
Background: DAAM2 is an important formin, which plays an important role in the polymerization of monomeric actin into linear filaments. Previous studies have suggested that the DAAM2 variant mainly causes congenital Nephr...
Prenatal diagnosis and follow-up of a child with mosaic tetrasomy 9p without obvious abnormal clinical manifestations [0.03%]
一项9p染色体四倍体嵌合体妊娠的产前诊断及随访（无明显临床表型）
Lifang Zhang,Feiyan Qian,Weiping Chen et al.
Lifang Zhang et al.
Introduction: To report the prenatal diagnosis and follow-up of a fetus with mosaic tetrasomy 9p without obvious abnormal clinical manifestations. Case re...
Discrepant findings of prenatal diagnostics in a case of fetal partial trisomy 21 and fetoplacental mosaicism [0.03%]
胎儿21三体不全和胎盘镶嵌染色体异常的产前诊断分析一例报告
T Dittrich,R Wenzel,A Beck et al.
T Dittrich et al.
Background: Partial trisomy 21 is a rare chromosomal aberration that can provide unique insights into genotype-phenotype correlations in Down syndrome (DS). While non-invasive prenatal testing (NIPT) has become a widely u...
Genome-wide copy-number analysis improves detection of pathogenic AZFc and autosomal variants in idiopathic non-obstructive azoospermia [0.03%]
全基因组拷贝数分析可提高特发性非梗阻性无精子症致病AZFc和常染色体变异检测的灵敏度
Andreja Zagorac,Nejc Kozar,Boris Zagradišnik et al.
Andreja Zagorac et al.
Acquired pericentric inversion of der(9) with BCR and ABL1 codeletion in chronic myeloid leukemia: a rare cytogenetic finding from Mali [0.03%]
慢性粒细胞白血病中获得的派克环中心 inverted commata 衍生染色体 9 并伴有 BCR 和 ABL1 共缺失：来自马里的罕见细胞遗传学发现
Oumar Samassekou,Modibo K Goita,Madani Ly et al.
Oumar Samassekou et al.
Background: Chronic myeloid leukemia (CML) is defined by the presence of the BCR::ABL1 fusion gene resulting from the t(9;22)(q34;q11.2) translocation. In addition to this primary rearrangement, secondary chromosomal abno...
Cytogenetic patterns of hematologic malignancies before, during and after the COVID-19 pandemic: a single-center retrospective study in Thailand [0.03%]
泰国单中心回顾性研究：新冠疫情之前、期间和之后的血液系统恶性肿瘤细胞遗传学模式
Montakarn Tansatit,Nutcharee Jongpornchai,Suwannee Songchart et al.
Montakarn Tansatit et al.
Background: Hematologic malignancies frequently harbor recurrent cytogenetic abnormalities that are essential for diagnosis and prognostic stratification. The COVID-19 pandemic raised concerns that infection-related biolo...
Identification a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2) in an azoospermic patient using C-MoKa [0.03%]
应用C-MoKa法识别一个无精子症患者中的罕见染色体易位45,X, der(Y;15)(q11.2;q11.2)
Jia Deng,Min Liu,Xiaowen Liu et al.
Jia Deng et al.
Background: The 45,X karyotype (X monosomy) is prevalent in females with Turner syndrome. However, in rare cases, it can also manifest in males. It typically results from an unbalanced translocation between the Y chromoso...