Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review
We present a genetic analysis of an asymptomatic family with a 4q terminal deletion; we also review other similar published studies and discuss the genotype –phenotype correlation. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 18, 2021 Category: Molecular Biology Authors: Gefei Xiao, Xianrong Qiu, Yuqiu Zhou, Gongjun Tan and Yao Shen Tags: Case Report Source Type: research
Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
Isolated Congenital Asplenia (ICA, OMIM #271400) is a rare, life-threatening abnormality causing immunodeficiency, which is characterized by the absence of a spleen. Diagnosis should be completed in early chil... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 15, 2021 Category: Molecular Biology Authors: Aleksandra Oszer, Katarzyna B ąbol-Pokora, Sylwia Kołtan, Agata Pastorczak and Wojciech Młynarski Tags: Case Report Source Type: research
Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report
Uniparental disomy (UPD) is defined as an inheritance of two chromosomes from only one of the parents with no representative copy from the other. Paternal-origin UPD of chromosome 3 is a very rare condition, w... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 6, 2021 Category: Molecular Biology Authors: Xiufen Bu, Xu Li, Shihao Zhou, Liangcheng Shi, Xuanyu Jiang, Can Peng, Hongyu Li and Jun He Tags: Case Report Source Type: research
Differentially accessible, single copy sequences form contiguous domains along metaphase chromosomes that are conserved among multiple tissues
During mitosis, chromatin engages in a dynamic cycle of condensation and decondensation. Condensation into distinct units to ensure high fidelity segregation is followed by rapid and reproducible decondensatio... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - October 20, 2021 Category: Molecular Biology Authors: Seana L. Hill, Peter K. Rogan, Yi Xuan Wang and Joan H. M. Knoll Tags: Research Source Type: research
Allelic and dosage effects of NHS in X-linked cataract and Nance –Horan syndrome: a family study and literature review
Nance –Horan syndrome (NHS) is a rare X-linked dominant disorder caused by mutation in the NHS gene on chromosome Xp22.13. (OMIM 302350). Classic NHS manifested in males is characterized by congenital cataracts, d... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - October 7, 2021 Category: Molecular Biology Authors: Caroline Miller, Benjamin G. Gertsen, Audrey L. Schroeder, Chin-To Fong, M. Anwar Iqbal and Bin Zhang Tags: Case Report Source Type: research
A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study
There are many reports on rearrangements occurring separately in the regions of chromosomes 9p and 15q affected in the case under study. 15q duplication syndrome is caused by the presence of at least one extra... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - October 4, 2021 Category: Molecular Biology Authors: Natalya A. Lemskaya, Svetlana A. Romanenko, Mariia A. Rezakova, Elena A. Filimonova, Dmitry Yu. Prokopov, Alexander A. Dolskiy, Polina L. Perelman, Yulia V. Maksimova, Asia R. Shorina and Dmitry V. Yudkin Tags: Case Report Source Type: research
Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array
In this study, we presented the detail of two Chinese families with partial distal 4q duplication in an attempt to cla... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 29, 2021 Category: Molecular Biology Authors: Jianlong Zhuang, Na Zhang, Wanyu Fu, Jianfeng Yao, Yanqing Li, Shuhong Zeng, Yuanbai Wang, Yingjun Xie and Yuying Jiang Tags: Research Source Type: research
Comprehensive analysis of mutations and clonal evolution patterns in a cohort of patients with cytogenetically normal acute myeloid leukemia
Relapsed acute myeloid leukemia (AML) is associated with the acquisition of additional somatic mutations which are thought to drive phenotypic adaptability, clonal selection and evolution of leukemic clones du... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 24, 2021 Category: Molecular Biology Authors: Yuslina Mat Yusoff, Fadly Ahid, Zahidah Abu Seman, Julia Abdullah, Nor Rizan Kamaluddin, Ezalia Esa and Zubaidah Zakaria Tags: Research Source Type: research
Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports
Trisomy 16 (T16) is thought to be the most frequent chromosome abnormality at conception, which is often associated with a high risk of abnormal outcomes. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 20, 2021 Category: Molecular Biology Authors: Haishan Peng, Jiexia Yang, Dongmei Wang, Fangfang Guo, Yaping Hou and Aihua Yin Tags: Case Report Source Type: research
Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder
4q deletion syndrome is a rare chromosomal disorder that mostly arises de novo. The syndrome is characterized by craniofacial dysmorphism, digital abnormalities, skeletal alterations, heart malformations, develop... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 4, 2021 Category: Molecular Biology Authors: Juan Pablo Meza-Espinoza, Jos é Alfredo Contreras-Gutiérrez, Eliakym Arámbula-Meraz, Juan Ramón González-García, Ma. Guadalupe Domínguez-Quezada, Noemí García-Magallanes, Jesús Madueña-Molina, Julio Benítez-Pascual, Miriam Partida-Pérez and V Tags: Case Report Source Type: research
Myelodysplastic syndrome presenting with central diabetes insipidus is associated with monosomy 7, visible or hidden: report of two cases and literature review
Central diabetes insipidus (CDI) is a rare complication of myelodysplastic syndrome (MDS). Although the cytogenetic features of patients with MDS and CDI are not clear, CDI in patients with acute myeloid leuke... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 1, 2021 Category: Molecular Biology Authors: Yunfan Yang, Ting Lin, Tian Dong and Yu Wu Tags: Case Report Source Type: research
A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization
Copy number gain 17 p13.3p13.1 was detected by chromosomal microarray (CMA) in a girl with developmental/speech delay and facial dysmorphism. FISH studies made it possible to establish that the identified geno... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 31, 2021 Category: Molecular Biology Authors: Zhanna G. Markova, Marina E. Minzhenkova, Lyudmila A. Bessonova and Nadezda V. Shilova Tags: Case Report Source Type: research
Placing women in Cytogenetics: Lore Zech and the chromosome banding technique
Scholars agree that Torbj örn Caspersson’s lab at the Institute of Medical Cell Research and Genetics at the Karolinska Institute, Sweden, played a key role in the first description of the so-called Q-banding t... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 5, 2021 Category: Molecular Biology Authors: Felicitas S öhner and Nils Hansson Tags: Research Source Type: research
Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search
The interstitial 6p22.3 deletions concern rare chromosomal events affecting numerous aspects of both physical and mental development. The syndrome is characterized by partial deletion of chromosome 6, which ma... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 24, 2021 Category: Molecular Biology Authors: Nikolaos Vrachnis, Ioannis Papoulidis, Dionysios Vrachnis, Elisavet Siomou, Nikolaos Antonakopoulos, Stavroula Oikonomou, Dimitrios Zygouris, Nikolaos Loukas, Zoi Iliodromiti, Efterpi Pavlidou, Loretta Thomaidis and Emmanouil Manolakos Tags: Case Report Source Type: research
Clinical significance and mechanisms associated with segmental UPD
Whole chromosome uniparental disomy (UPD) has been well documented with mechanisms largely understood. However, the etiology of segmental limited UPD (segUPD) is not as clear. In a 10-year period of confirming... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 20, 2021 Category: Molecular Biology Authors: Peter R. Papenhausen, Carla A. Kelly, Samuel Harris, Samantha Caldwell, Stuart Schwartz and Andrea Penton Tags: Research Source Type: research
