Most Recent Articles: Molecular Cytogeneticshttps://molecularcytogenetics.biomedcentral.comMost Recent Articles: Molecular CytogeneticsFamily case of Potocki-Lupski syndromehttps://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-024-00673-5Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide var...Case ReportFri, 22 Mar 2024 00:00:00 GMThttps://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-024-00673-5L. N. Kolbasin, T. A. Dubrovskaya, G. B. Salnikova, E. N. Solovieva, M. Yu. Donnikov, R. A. Illarionov, A. S. Glotov, L. V. Kovalenko and L. D. Belotserkovtseva2024-03-22T00:00:00Z11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?https://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-024-00672-6Silver–Russel syndrome (SRS) is a congenital disorder which is mainly characterized by intrauterine and postnatal growth retardation, relative macrocephaly, and characteristic (facial) dysmorphisms. The majori...Case ReportThu, 14 Mar 2024 00:00:00 GMThttps://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-024-00672-6Asmaa K. Amin, Jeremias Krause and Thomas Eggermann2024-03-14T00:00:00ZIdentification of chromosomal abnormalities in miscarriages by CNV-Seqhttps://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-024-00671-7The primary object of this study is to analyze chromosomal abnormalities in miscarriages detected by copy number variants sequencing (CNV-Seq), establish potential pathways or genes related to miscarriages, an...ResearchSun, 18 Feb 2024 00:00:00 GMThttps://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-024-00671-7Yuqi Shao, Saisai Yang, Lin Cheng, Jie Duan, Jin Li, Jiawei Kang, Fang Wang, Juan Liu, Fang Zheng, Jianhong Ma and Yuanzhen Zhang2024-02-18T00:00:00ZChromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective studyhttps://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-023-00668-8Chromosomal 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...ResearchTue, 30 Jan 2024 00:00:00 GMThttps://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-023-00668-8Chenxia Xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang and Jianming Peng2024-01-30T00:00:00ZContribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort studyhttps://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-023-00664-yThe 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...ResearchThu, 04 Jan 2024 00:00:00 GMThttps://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-023-00664-yShaobin Lin, Shanshan Shi, Jian Lu, Zhiming He, Danlun Li, Linhuan Huang, Xuan Huang, Yi Zhou and Yanmin Luo2024-01-04T00:00:00Z