Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review
We reported a case of congenital asymmetric crying facies (ACF) syndrome with 10q... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 13, 2021 Category: Molecular Biology Authors: Qinghong Li, Chunmei Sun, Jinzhen Guo, Wen Zhai and Liping Zhang Tags: Research Source Type: research
Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay
This study reported a large Chinese pedigree (4-generation, 76 members) with mental retardatio... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 8, 2021 Category: Molecular Biology Authors: Dongmei Hao, Yajuan Li, Lisha Chen, Xiliang Wang, Mengxing Wang and Yuexin Yu Tags: Case Report Source Type: research
A Turner syndrome case associated with dic(Y;22)
Constitutional telomeric associations are very rare events and the mechanism underlying their development is not well understood. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 8, 2021 Category: Molecular Biology Authors: Rie Kawamura, Hidehito Inagaki, Midori Yamada, Fumihiko Suzuki, Yuki Naru and Hiroki Kurahashi Tags: Case Report Source Type: research
The pattern of gene copy number alteration (CNAs) in hepatocellular carcinoma: an in silico analysis
Hepatocellular carcinoma (HCC) is the most common type of liver cancer that occurs predominantly in patients with previous liver conditions. In the absence of an ideal screening modality, HCC is usually diagno... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 2, 2021 Category: Molecular Biology Authors: Arman Shahrisa, Maryam Tahmasebi-Birgani, Hossein Ansari, Zahra Mohammadi, Vinicio Carloni and Javad Mohammadi Asl Tags: Research Source Type: research
Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies
To investigate the clinical value of non-invasive prenatal testing (NIPT) to screen for chromosomal abnormalities in twin pregnancies and to provide further data on NIPT manifestations in twin pregnancies. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 30, 2021 Category: Molecular Biology Authors: Yuan Cheng, Xinran Lu, Junxiang Tang, Jingran Li, Yuxiu Sun, Chaohong Wang and Jiansheng Zhu Tags: Research Source Type: research
Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report
Fetoplacental discrepancies occur in approximately 1 –2% of analyzed prenatal cases. They are typically due to confined placental mosaicism, where an aberration is observed in the placental cells but not found ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 14, 2021 Category: Molecular Biology Authors: Eini Westenius, Maria Pettersson and Erik Bj örck Tags: Case Report Source Type: research
Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases
To assess the detection efficiency of noninvasive prenatal testing (NIPT) for fetal autosomal aneuploidy, sex chromosome aneuploidy (SCA), other chromosome aneuploidy, copy number variation (CNV), and to provi... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 14, 2021 Category: Molecular Biology Authors: Yu Pang, Chaohong Wang, Junxiang Tang and Jiansheng Zhu Tags: Research Source Type: research
Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature
We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 28, 2021 Category: Molecular Biology Authors: Qiao-Yan Shao, Pei-Lin Wu, Bi-Yun Lin, Sen-Jing Chen, Jian Liu and Su-Qing Chen Tags: Case Report Source Type: research
Complex rearrangement in acute myeloid leukemia M2 with RUNX1/RUNX1T1 fusion involving chromosomes 8, 17 and 21
The translocation t(8;21)(q22;q22) is one of the most frequent chromosomal abnormalities associated with acute myeloid leukemia (AML) sub type M2. About 3 –5 % of cases with additional chromosomal abnormalities... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 21, 2021 Category: Molecular Biology Authors: Shiba Ranjan Mishra, Leena Rawal, Moneeb A. K. Othman, Atul Thatai, Aditi Sarkar, Vandana Lal and Saurabh Kumar Bhattacharya Tags: Case Report Source Type: research
Cytogenetic and mutational analysis and outcome assessment of a cohort of 284 children with de novo acute myeloid leukemia reveal complex karyotype as an adverse risk factor for inferior survival
Acute myeloid leukemia (AML) is rare in children. Although complex karyotype (CK) defined as ≥ 3 cytogenetic abnormalities is an adverse risk factor in adult AML, its prognostic impact on childhood AML remains... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 19, 2021 Category: Molecular Biology Authors: Xi Chen, Xingjuan Wang, Hu Dou, Zhenzhen Yang, Junqin Bi, Yi Huang, Ling Lu, Jie Yu and Liming Bao Tags: Research Source Type: research
Mosaic duplication of 8q24.1q24.3 detected by chromosomal microarray but not karyotyping in two unrelated fetuses with cardiac defects
Discordance between traditional cytogenetic and molecular cytogenetic tests is rare but not uncommon. The explanation of discordance between two genetic methods is difficult but especially important for geneti... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 18, 2021 Category: Molecular Biology Authors: Shaobin Lin, Shufang Huang, Xueling Ou, Heng Gu, Yonghua Wang, Ping Li and Yi Zhou Tags: Case Report Source Type: research
The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China
Although a few studies have investigated a possible association between maternal age and fetal sex chromosome aneuploidies (SCAs), most of these studies were limited to advanced maternal age (AMA) women and th... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 10, 2021 Category: Molecular Biology Authors: Hongge Li, Yuchan Mao and Jinglei Jin Tags: Research Source Type: research
Clinico-Hematological and cytogenetic spectrum of adult myelodysplastic syndrome: The first retrospective cross-sectional study in Iranian patients
Myelodysplastic syndrome (MDS), a heterogeneous group of hematopoietic malignancy, has been shown to present different cytogenetic abnormalities, risk factors, and clinico-hematological features in different p... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 8, 2021 Category: Molecular Biology Authors: Mostafa Paridar, Kazem Zibara, Seyed Esmaeil Ahmadi, Abbas Khosravi, Maral Soleymani, Ebrahim Azizi and Omid Kiani Ghalesardi Tags: Research Source Type: research
When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20
Infantile hypercalcemia is an autosomal recessive disorder caused either by mutations in the CYP24A1 gene (20q13.2) or in the SLC34A1 gene (5q35.3). This disease is characterized by hypercalcemia, hypercalciuria ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 5, 2021 Category: Molecular Biology Authors: Marguerite Hureaux, Sandra Chantot-Bastaraud, K évin Cassinari, Edouard Martinez Casado, Ariane Cuny, Thierry Frébourg, Rosa Vargas-Poussou and Anne-Claire Bréhin Tags: Case Report Source Type: research
Aneuploid abortion correlates positively with MAD1 overexpression and miR-125b down-regulation
Aneuploidy is the most frequent cause of early-embryo abortion. Any defect in chromosome segregation would fail to satisfy the spindle assembly checkpoint (SAC) during mitosis, halting metaphase and causing an... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - April 26, 2021 Category: Molecular Biology Authors: Juan Zhao, Hui Li, Guangxin Chen, Lijun Du, Peiyan Xu, Xiaoli Zhang, Min Xie, Tiansheng Cao and Haibo Li Tags: Research Source Type: research
