Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples
Pallister-Killian syndrome (PKS) (OMIM:#601803) is a rare sporadic genetic disorder characterized by multi-malformations which is caused by the presence of the extra isochromosome 12p. PKS is featured by the t... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 30, 2019 Category: Molecular Biology Authors: Ting Wang, Congmian Ren, Dan Chen, Jian Lu, Li Guo, Laiping Zheng, Yuan Liu and Hanbiao Chen Tags: Research Source Type: research
Transgenerational telomere erosion in the monogametic sex: human telomeres progressively erode in the female germline and do not lengthen in aged testes
Long telomeres, the protective caps of eukaryotic chromosomes, which erode during aging, have been the symbol of youth and regenerative potential. It therefore came as a surprise, when several cross-sectional ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 23, 2019 Category: Molecular Biology Authors: Reinhard Stindl Tags: Hypothesis Source Type: research
Submicroscopic aberrations of chromosome 16 in prenatal diagnosis
Nearly 9.89% of chromosome 16 consists of segmental duplications, which makes it prone to non-homologous recombination. The present study aimed to investigate the incidence and perinatal characteristics of sub... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 5, 2019 Category: Molecular Biology Authors: Xiaoqing Wu, Liangpu Xu, Ying Li, Na Lin, Linjuan Su, Meiying Cai, Xiaorui Xie, Lin Zheng, Hailong Huang and Yuan Lin Tags: Research Source Type: research
Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion
The 17p11.2p12 locus is an unstable region that is predisposed to several known genomic disorders and non-recurrent rearrangements that yield varied and wide-ranging phenotypes. Nearly 1% of male newborns have... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 1, 2019 Category: Molecular Biology Authors: Liliana Fern ández-Hernández, María José Navarro-Cobos, Miguel Angel Alcántara-Ortigoza, Sandra Elena Ramos-Ángeles, Bertha Molina-Álvarez, Sinhué Díaz-Cuéllar, Bárbara Asch-Daich and Ariadna González-del Angel Tags: Case Report Source Type: research
Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test
Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies using cell-free DNA (cfDNA) has been widely adopted in clinical practice due to its improved accuracy. A number of NIPT tests have been developed and... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 15, 2019 Category: Molecular Biology Authors: Elena Kypri, Marios Ioannides, Evi Touvana, Ioanna Neophytou, Petros Mina, Voula Velissariou, Spiros Vittas, Alfredo Santana, Filippos Alexidis, Kyriakos Tsangaras, Achilleas Achilleos, Philippos Patsalis and George Koumbaris Tags: Research Source Type: research
Head and neck cancer: searching for genomic and epigenetic biomarkers in body fluids – the state of art
Head and neck squamous cell carcinoma (HNSCC) affects multiple sites of the upper aerodigestive tract and exhibited high incidence and mortality worldwide, being frequently diagnosed at advanced stage. Early d... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 11, 2019 Category: Molecular Biology Authors: Ilda Patr ícia Ribeiro, Joana Barbosa de Melo and Isabel Marques Carreira Tags: Review Source Type: research
Abstracts of the 12th European Cytogenomics Conference 2019
(Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 5, 2019 Category: Molecular Biology Tags: Meeting abstracts Source Type: research
Is an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses?
This study aimed to estimate the associations of copy number variants (CNVs) with fetal kidney ultrasound anomalies. A total of 331 fetuses with kidney ultrasound anomalies who underwent prenatal chromosomal m... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 5, 2019 Category: Molecular Biology Authors: Shaobin Lin, Shanshan Shi, Linhuan Huang, Ting Lei, Danlei Cai, Wenlong Hu, Yi Zhou and Yanmin Luo Tags: Research Source Type: research
A case of acute promyelocytic leukemia variant with derivative chromosome 3 der(3)t(3;8) associated with 8q partial gain
Acute promyelocytic leukemia (APL) is characterized by fusion of PML/RAR α genes as a result of t(15;17)(q24;q21). APL is now one of the curable hematological malignancies thanks to molecularly targeted therapi... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 5, 2019 Category: Molecular Biology Authors: Filomena Nozza, Gabriella Vona, Stefania Trino, Fiorella D ’Auria, Francesco La Rocca, Vitina Grieco, Luciana Possidente, Luciana De Luca and Pellegrino Musto Tags: Case Report Source Type: research
Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies
Non-invasive prenatal testing (NIPT) has been widely used to detect common fetal chromosome aneuploidies, such as trisomy 13, 18, and 21 (T13, T18, and T21), and has expanded to sex chromosome aneuploidies (SC... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 20, 2019 Category: Molecular Biology Authors: Ying Xue, Guodong Zhao, Hong Li, Qin Zhang, Jiafeng Lu, Bin Yu and Ting Wang Tags: Research Source Type: research
Genome reorganization in different cancer types: detection of cancer specific breakpoint regions
Tumorigenesis is a multi-step process which is accompanied by substantial changes in genome organization. The development of these changes is not only a random process, but rather comprise specific DNA regions... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 20, 2019 Category: Molecular Biology Authors: Christoph Standfu ß, Jonas Parczyk, Jerome Ruhnau and Andreas Klein Tags: Research Source Type: research
Detection of a balanced translocation carrier through trophectoderm biopsy analysis: a case report
Balanced translocation carriers are burdened with fertility issues due to improper chromosome segregation in gametes, resulting in either implantation failure, miscarriage or birth of a child with chromosomal ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 18, 2019 Category: Molecular Biology Authors: Olga T šuiko, Tuuli Dmitrijeva, Katrin Kask, Pille Tammur, Neeme Tõnisson, Andres Salumets and Tatjana Jatsenko Tags: Case Report Source Type: research
One-fits-all pretreatment protocol facilitating Fluorescence In Situ Hybridization on formalin-fixed paraffin-embedded, fresh frozen and cytological slides
The Fluorescence In Situ Hybridization (FISH) technique is a very useful tool for diagnostic and prognostic purposes in molecular pathology. However, clinical testing on patient tissue is challenging due to va... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 17, 2019 Category: Molecular Biology Authors: Shivanand O. Richardson, Manon M. H. Huibers, Roel A. de Weger, Wendy W. J. de Leng, John W. J. Hinrichs, Ruud W. J. Meijers, Stefan M. Willems and Ton L. M. G. Peeters Tags: Methodology Source Type: research
A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign
Complex chromosomal rearrangements are constitutive structural aberrations involving three or more breaks. They can be balanced or unbalanced and result in different outcomes, depending on deletion/duplication... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 14, 2019 Category: Molecular Biology Authors: Fabrizia Restaldi, Viola Alesi, Angela Aquilani, Silvia Genovese, Serena Russo, Valentina Coletti, Daniele Pompili, Roberto Falasca, Bruno Dallapiccola, Rossella Capolino, Matteo Luciani and Antonio Novelli Tags: Case Report Source Type: research
Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation
Etiology of developmental delay/intellectual disability is very heterogeneous. In recent years, genetic causes have been defined through the use of chromosomal microarray analysis as a first step genetic test. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 27, 2019 Category: Molecular Biology Authors: Şule Altıner and Nüket Yürür Kutlay Tags: Research Source Type: research
