Rare cytogenetic abnormalities and their clinical relevance in pediatric acute leukemia of Saudi Arabian population
Childhood Acute Leukemia (AL) is characterized by recurrent genetic aberrations in 60% of AML cases and 90% of ALL cases. Insufficient data exists of rare cytogenetic abnormalities in AL. Therefore, we tested ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - October 11, 2019 Category: Molecular Biology Authors: Nawaf Alkhayat, Ghaleb Elyamany, Yasser Elborai, Qanita Sedick, Mohammad Alshahrani, Omar Al Sharif, Abdulmalik Alenezy, Amjad Hammdan, Hatem Elghezal, Omar Alsuhaibani, Mansour S. Aljabry, May AlMoshary and Eman Al Mussaed Tags: Research Source Type: research

C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis
In prenatal diagnosis, CMA has begun to emerge as a favorable alternative to karyotype analysis, but it could not identify balanced translocations, triploidies, inversion and heteromorphisms. Therefore, conven... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 18, 2019 Category: Molecular Biology Authors: Jian Jiang Zhu, Hong Qi, Li Rong Cai, Xiao Hui Wen, Wen Zeng, Guo Dong Tang, Yao Luo, Ran Meng, Xue Qun Mao and Shao Qin Zhang Tags: Research Source Type: research

Genetic analysis of products of conception using a HLPA/SNP-array strategy
Fetal chromosomal abnormalities was the most frequent cause of miscarriage, and the traditional testing method G-banded karyotyping has limitations. Then high-throughput ligation-dependent probe amplification ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 2, 2019 Category: Molecular Biology Authors: Jun Mao, Huiling Wang, Haibo Li, Xiaoyan Song, Ting Wang, Jingjing Xiang and Hong Li Tags: Research Source Type: research

Non-invasive prenatal testing reveals copy number variations related to pregnancy complications
Pregnancy complications could lead to maternal and fetal morbidity and mortality. Early diagnosing and managing complications have been associated with good outcomes. The placenta was an important organ for de... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 30, 2019 Category: Molecular Biology Authors: Guangping Wu, Rong Li, Chao Tong, Miaonan He, Zhiwei Qi, Huijuan Chen, Tao Deng, Hailiang Liu and Hongbo Qi Tags: Research Source Type: research

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

Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report
Copy number variation (CNV) is a complex genomic rearrangement that has been linked to a large number of human diseases. Chromosome 15q13 microduplication is a rare form of CNV, which has been proved to be ass... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 27, 2019 Category: Molecular Biology Authors: Chen-Zhao Lin, Bi-Ru Qi, Jian-Su Hu, Yu-Dian Huang and Xiu-Qiong Huang Tags: Case Report Source Type: research

Deletions in the 17q chromosomal region and their influence on the clonal cytogenetic evolution of recurrent meningiomas
Meningiomas are among the most frequent intracranial tumors. Although the majority of meningiomas can be cured by surgical resection, up to 20% of the patients develop an aggressive clinical course with tumor ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 24, 2019 Category: Molecular Biology Authors: Sina Hemmer, Steffi Urbschat, Joachim Oertel and Ralf Ketter Tags: Research Source Type: research

First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient
15q13.3 syndrome is associated with a wide spectrum of neurological disorders. Among a cohort of 150 neurodevelopmental cases, we identified two patients with two close proximity interstitial hemizygous deleti... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 18, 2019 Category: Molecular Biology Authors: Maysoon Alsagob, Mustafa A. Salih, Muddathir H. A. Hamad, Yusra Al-Yafee, Jawaher Al-Zahrani, Albandary Al-Bakheet, Michael Nester, Nadia Sakati, Salma M. Wakil, Ali AlOdaib, Dilek Colak and Namik Kaya Tags: Short report Source Type: research

Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities
Copy number variations (CNVs) involving the 17q12 region are associated with a broad range of clinical phenotypes. Deletion of the 17q12 chromosome results in structural or functional abnormalities in the kidn... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 17, 2019 Category: Molecular Biology Authors: Shanning Wan, Yunyun Zheng, Yinghui Dang, Tingting Song, Biliang Chen and Jianfang Zhang Tags: Case Report Source Type: research

Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature
There are only ten reported cases of interstitial deletions involving cytogenetic bands 10q21.3q22.2 in the literature. Of the ten patients with overlapping 10q21.3q22.2 interstitial deletions, only nine have ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 17, 2019 Category: Molecular Biology Authors: John C. Herriges, Sarah L. Dugan and Allen N. Lamb Tags: Case Report Source Type: research

Analysis of copy number variations induced by ultrashort electron beam radiation in human leukocytes in vitro
Environmental risk factors have been shown to alter DNA copy number variations (CNVs). Recently, CNVs have been described to arise after low-dose ionizing radiation in vitro and in vivo. Development of cost- a... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 16, 2019 Category: Molecular Biology Authors: Tigran Harutyunyan, Galina Hovhannisyan, Anzhela Sargsyan, Bagrat Grigoryan, Ahmed H. Al-Rikabi, Anja Weise, Thomas Liehr and Rouben Aroutiounian Tags: Research Source Type: research

The emerging links between chromosomal instability (CIN), metastasis, inflammation and tumour immunity
Many cancers possess an incorrect number of chromosomes, a state described as aneuploidy. Aneuploidy is often caused by Chromosomal Instability (CIN), a process of continuous chromosome mis-segregation. CIN is... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 14, 2019 Category: Molecular Biology Authors: Andr éa E. Tijhuis, Sarah C. Johnson and Sarah E. McClelland Tags: Review Source Type: research

Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability
Deletion or duplication on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotype including. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - April 17, 2019 Category: Molecular Biology Authors: Xiaofei Cheng, Qifang Yang, Jun Liu, Juan Ye, Huiying Xiao, Gaimei Zhang, Yuanyuan Pan, Xia Li, Ruifeng Hao and Yinfeng Li Tags: Case Report Source Type: research

The karyotype of Aegilops geniculata and its use to identify both addition and substitution lines of wheat
The annual allotetraploid species Aegilops geniculata harbors a number of traits relevant for wheat improvement. An effective cytogenetic method has yet to be developed to distinguish between each of its 14 chrom... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - April 2, 2019 Category: Molecular Biology Authors: Yingjin Yi, Ke Zheng, Shunzong Ning, Laibin Zhao, Kai Xu, Ming Hao, Lianquan Zhang, Zhongwei Yuan and Dengcai Liu Tags: Research Source Type: research

Cell maps on the human genome
We have previously described evidence for a statistically significant, global, supra-chromosomal representation of the human body that appears to stretch over the entire genome. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 20, 2019 Category: Molecular Biology Authors: Christopher Cherniak and Raul Rodriguez-Esteban Tags: Research Source Type: research

Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis
This study aimed to evaluate the feasibility of chromosomal microarray analysis (CMA) in detecting the origin and structure of small supernumerary marker chromosomes (sSMCs) in prenatal and postnatal cases and... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 11, 2019 Category: Molecular Biology Authors: Huili Xue, Hailong Huang, Yan Wang, Gang An, Min Zhang, Liangpu Xu and Yuan Lin Tags: Research Source Type: research

Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series
Regions of homozygosity (ROH) are continuous homozygous segments commonly seen in the human genome. The integration of single nucleotide polymorphism (SNP) probes into current array comparative genomic hybridi... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 6, 2019 Category: Molecular Biology Authors: Jiadi Wen, Kathleen Comerford, Zhiyong Xu, Weiqing Wu, Katherine Amato, Brittany Grommisch, Autumn DiAdamo, Fang Xu, Hongyan Chai and Peining Li Tags: Research Source Type: research

Analysis of meiotic segregation modes in biopsied blastocysts from preimplantation genetic testing cycles of reciprocal translocations
To analyse the meiotic segregation modes of chromosomal structural rearrangements (PGT-SR) of reciprocal translocation in biopsied blastocysts from preimplantation genetic testing and to investigate whether an... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 26, 2019 Category: Molecular Biology Authors: Jie Wang, Dong Li, Zhipeng Xu, Zhenyu Diao, Jianjun Zhou, Fei Lin and Ningyuan Zhang Tags: Research Source Type: research

Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women
Conventional cytogenetic analysis using G-band karyotyping has been the method of choice for prenatal diagnosis, accurately detecting chromosomal abnormalities larger than 5  Mb. However, the method is ineffici... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 26, 2019 Category: Molecular Biology Authors: Dongsook Lee, Sohyun Na, Surim Park, Sanghee Go, Jinyoung Ma, Soonha Yang, Kichul Kim, Seunggwan Lee and Doyeong Hwang Tags: Research Source Type: research

Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis
This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs ™) assay and conventional karyotyping for the prenatal detection of chromoso... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 22, 2019 Category: Molecular Biology Authors: Zhengyou Miao, Xia Liu, Furong Hu, Ming Zhang, Pingli Yang and Luming Wang Tags: Research Source Type: research

The rare mutation in the endosome-associated recycling protein gene VPS50 is associated with human neural tube defects
Tight control of endosome trafficking is essential for the generation of a normally patterned embryo. Recent studies have found that VPS50 is a key ingredient in EARP which is required for recycling of interna... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 20, 2019 Category: Molecular Biology Authors: Zhiwen Shi, Shuxia Chen, Xiao Han, Rui Peng, Jin Luo, Luming Yang, Yufang Zheng and Hongyan Wang Tags: Research Source Type: research

Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chromosome 15q11.2-q13.3 r... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 18, 2019 Category: Molecular Biology Authors: Chang Liu, Xiangzhong Zhang, Jicheng Wang, Yan Zhang, Anshi Wang, Jian Lu, Yanlin Huang, Shu Liu, Jing Wu, Li Du, Jie Yang, Hongke Ding, Ling Liu, Xin Zhao and Aihua Yin Tags: Research Source Type: research

Chromoanagenesis: cataclysms behind complex chromosomal rearrangements
During the last decade, genome sequencing projects in cancer genomes as well as in patients with congenital diseases and healthy individuals have led to the identification of new types of massive chromosomal r... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 11, 2019 Category: Molecular Biology Authors: Franck Pellestor Tags: Review Source Type: research

Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The ai... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 8, 2019 Category: Molecular Biology Authors: Wafa Slimani, Hela Ben Khelifa, Sarra Dimassi, Fatma-Zohra Chioukh, Afef Jelloul, Molka Kammoun, Hanene Hannachi, Sarra Bouslah, Nesrine Jammali, Damien Sanlaville, Ali Saad and Soumaya Mougou-Zerelli Tags: Research Source Type: research

Pathway-based classification of genetic diseases
In medical genetics, diseases are classified according to the nature (hypothetical nature) of the underlying genetic defect. The classification is “gene-centric” and “factor-centric”; a disease may be, thereby... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 4, 2019 Category: Molecular Biology Authors: Ivan Y. Iourov, Svetlana G. Vorsanova and Yuri B. Yurov Tags: Hypothesis Source Type: research

A patient with a diagnosis of nodal marginal zone B-cell lymphoma and a t(2;14)(p24;q32) involving MYCN and IGH
Nodal marginal zone B-cell lymphoma is a rare entity in which the cytogenetic findings are not well defined. The t(2;14)(p24;q32) has previously been reported in three patients with blastic mantle cell lymphom... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 1, 2019 Category: Molecular Biology Authors: Angela Brown, Isabella Sciascia-Visani, Dianna Farrell, Meg Smith, Clive Felix, Vanaja Mutharajah, Jackie Ruell and Graeme Taylor Tags: Case Report Source Type: research

Genomic instability in a chronic lymphocytic leukemia patient with mono-allelic deletion of the DLEU and RB1 genes
The most frequent cytogenetic abnormality detected in chronic lymphocytic leukemia (CLL) patients is the presence of a deletion within the chromosome band 13q14. Deletions can be heterogeneous in size, general... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 31, 2019 Category: Molecular Biology Authors: Mar ía Paulina Nava-Rodríguez, Martín Daniel Domínguez-Cruz, Lilia Beatriz Aguilar-López, César Borjas-Gutiérrez, María Teresa Magaña-Torres and Juan Ramón González-García Tags: Case Report Source Type: research

Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes
Isodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line. Several cytogenetic techniques have been used for diagnosin... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 9, 2019 Category: Molecular Biology Authors: Yuan Liu, Li Guo, Hanbiao Chen, Jian Lu, Jingjing Hu, Xianzheng Li, Xing Li, Ting Wang, Fengzhen Li and Aihua Yin Tags: Case Report Source Type: research

The decision on the embryo to transfer after Preimplantation Genetic Diagnosis for X-autosome reciprocal translocation in male carrier
The aim of Preimplantation Genetic Diagnosis (PGD) on embryos produced in vitro is to identify the embryos without genetic or chromosomal defect from those embryos that will develop the genetic disease or are chr... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 29, 2018 Category: Molecular Biology Authors: Sandrine Chamayou, Maria Sicali, Debora Lombardo, Carmelita Alecci and Antonino Guglielmino Tags: Case Report Source Type: research

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22
Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 29, 2018 Category: Molecular Biology Authors: Franziska Schnabel, Mateja Smogavec, Rudolf Funke, Silke Pauli, Peter Burfeind and Iris Bartels Tags: Case Report Source Type: research

VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia
VIII World Rett Syndrome Congress& Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 24, 2018 Category: Molecular Biology Authors: Ivan Y. Iourov, Svetlana G. Vorsanova, Yuri B. Yurov and Thomas Bertrand Tags: Review Source Type: research

Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report
Uniparental disomy (UPD) is a rare condition in which a child inherits both copies of a chromosome or chromosome segment from one parent. Medical consequences of UPD may include abnormal imprinting, unmasking ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 20, 2018 Category: Molecular Biology Authors: Elizabeth R. Kerr, Gary M. Stuhlmiller, George C. Maha, Mark A. Ladd, Fady M. Mikhail, Ruth P. Koester and Anna C. E. Hurst Tags: Case Report Source Type: research

The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies
Non-invasive prenatal testing (NIPT) as alternative screening method had been proven to have very high sensitivity and specificity for detecting common aneuploidies such as T21, T18, and T13, with low false po... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 3, 2018 Category: Molecular Biology Authors: Hongge Li, Yu Lei, Hui Zhu, Yuqin Luo, Yeqing Qian, Min Chen, Yixi Sun, Kai Yan, Yanmei Yang, Bei Liu, Liya Wang, Yingzhi Huang, Junjie Hu, Jianyun Xu and Minyue Dong Tags: Research Source Type: research

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects
This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior pre... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 28, 2018 Category: Molecular Biology Authors: Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu and Hua Cao Tags: Research Source Type: research

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation
Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features. Dup... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 6, 2018 Category: Molecular Biology Authors: A. M. Mohamed, H. T. El-Bassyouni, A. M. El-Gerzawy, S. A. Hammad, N. A. Helmy, A. K. Kamel, S. I. Ismail, M. Y. Issa, O. Eid and M. S. Zaki Tags: Case Report Source Type: research

18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature
Deletions involving the long arm of chromosome 18 have been associated with a highly variable phenotypic spectrum that is related to the extent of the deleted region. Duplications in chromosomal region 4p16.3 ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - October 19, 2018 Category: Molecular Biology Authors: Chunjing Wang, Huanhuan Ren, Huaifu Dong, Meng Liang, Qi Wu and Yaping Liao Tags: Case Report Source Type: research