Correction: X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature [0.03%]
纠正X染色体异常导致的卵巢早衰一个病例报告和文献回顾英文翻译成中文是：纠正：分子细胞遗传学方法诊断出与早期卵巢功能不全相关的X染色体重组：案例报告及文献综述
Zhifang Peng,Renqi Yang,Qing Liu et al.
Zhifang Peng et al.
Published Erratum
Molecular cytogenetics. 2024 Oct 11;17(1):23. DOI:10.1186/s13039-024-00694-0 2024
Higher prevalence of poor prognostic markers at a younger age in adult patients with myelodysplastic syndrome - evaluation of a large cohort in India [0.03%]
印度成人骨髓增生异常综合征患者不良预后指标的患病率较高——对一大组患者的评估
Vivi M Srivastava,Sukesh Chandran Nair,Melvin Joy et al.
Vivi M Srivastava et al.
Background: The karyotype is a major determinant of prognosis in myelodysplastic syndrome (MDS). Details of the cytogenetic profile of MDS in South Asia are limited because cytogenetic services are not widely available. ...
Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study [0.03%]
染色体微阵列分析和全外显子组测序在胎儿右侧主动脉弓产前诊断中的应用：一项对中国单中心的回顾性研究
Lu Zhang,Ruibin Huang,Hang Zhou et al.
Lu Zhang et al.
Background: Right aortic arch (RAA) is a common congenital aortic arch abnormality. Fetuses with RAA frequently have good outcomes after birth. However, chromosomal abnormalities and genetic syndromes suggest poor prognos...
Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study [0.03%]
中国人群妊娠胎儿15q11.2BP1-BP2微缺失的产前诊断七年单中心回顾性研究
Jianlong Zhuang,Na Zhang,Wanyu Fu et al.
Jianlong Zhuang et al.
Background: The 15q11.2 BP1-BP2 microdeletion syndrome is associated with developmental delays, language impairments, neurobehavioral disorders, and psychiatric complications. The aim of the present study was to provide p...
Stephanie A Balow,Alyxis G Coyan,Nicki Smith et al.
Stephanie A Balow et al.
Background: Chromoanagenesis is an umbrella term used to describe catastrophic "all at once" cellular events leading to the chaotic reconstruction of chromosomes. It is characterized by numerous rearrangements involving a...
Clinical features associated with maternal uniparental disomy for chromosome 6 [0.03%]
六号染色体母源单亲二倍体的临床特征分析
Jing-Wen Li,Yan-Jie Qian,Shao-Jia Mao et al.
Jing-Wen Li et al.
Background: Maternal uniparental disomy for chromosome 6 (upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with nove...
Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report [0.03%]
14号环状染色体综合征患者的染色体不稳定性的病例报告
Juan Pablo Meza-Espinoza,Juan Ramón González-García,Nayeli Nieto-Marín et al.
Juan Pablo Meza-Espinoza et al.
Background: Ring chromosome 14 syndrome is a rare disorder primarily marked by early-onset epilepsy, microcephaly, distinctive craniofacial features, hypotonia, intellectual disability, and delay in both development and l...
Cytogenomic description of a Mexican cohort with differences in sex development [0.03%]
墨西哥地区不同性别发育群体的细胞遗传组描述
Grecia C Olivera-Bernal,Marlon De Ita-Ley,Edgar F Ricárdez-Marcial et al.
Grecia C Olivera-Bernal et al.
Background: Differences in Sex Development (DSD) is a heterogeneous group of congenital alterations that affect inner and/or outer primary sex characters. Although these conditions do not represent a mortality risk, they ...
Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption? [0.03%]
中节骨骺发育不良-并指综合征：连续性缺失综合征、SULF1 半合子不足或启动子使用异常？
Ingrid Bendas Feres Lima,Lúcia de Fátima Marques de Moraes,Carlos Roberto da Fonseca et al.
Ingrid Bendas Feres Lima et al.
Background: Mesomelia-Synostoses Syndrome (MSS)(OMIM 600,383) is a rare autosomal dominant disorder characterized by mesomelic limb shortening, acral synostoses and multiple congenital malformations which is described as ...
Cytogenomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals TCR rearrangements as predictive factors for exceptional prognosis [0.03%]
儿童T细胞急性淋巴细胞白血病的细胞遗传组学特征发现TCR重排是预后良好的预测因素
Libuse Lizcova,Eva Prihodova,Lenka Pavlistova et al.
Libuse Lizcova et al.
Background: T-cell acute lymphoblastic leukemia (T-ALL) represents a rare and clinically and genetically heterogeneous disease that constitutes 10-15% of newly diagnosed pediatric ALL cases. Despite improved outcomes of t...