Articles

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

Cri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe p...

Authors: Jiasun Su, Huayu Fu, Bobo Xie, Weiliang Lu, Wei Li, Yuan Wei, Qiang Zhang, Shengkai Wei, Qiuli Chen, Yingchi Lu, Tingting Jiang, Jingsi Luo and Zailong Qin

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

Non-invasive prenatal testing (NIPT) has been widely adopted for the detection of fetal aneuploidies and microdeletion syndromes, nevertheless, limited clinical utilization has been reported for the non-invasi...

Authors: George Koumbaris, Achilleas Achilleos, Michalis Nicolaou, Charalambos Loizides, Kyriakos Tsangaras, Elena Kypri, Petros Mina, Carolina Sismani, Voula Velissariou, Georgia Christopoulou, Pantelis Constantoulakis, Emmanouil Manolakos, Ioannis Papoulidis, Danai Stambouli, Marios Ioannides and Philippos Patsalis

Jumping translocations of chromosome 1q occurring by a multi-stage process in an acute myeloid leukemia progressed from myelodysplastic syndrome with a TET2 mutation

Jumping translocations (JTs) are rare chromosome rearrangements characterized by re-localization of one donor chromosome to multiple recipient chromosomes. Here, we describe an acute myeloid leukemia (AML) tha...

Authors: Ina Lee, Mary A. Gudipati, Elizabeth Waters, Vu H. Duong, Maria R. Baer and Ying Zou

Nonclonal chromosomal alterations and poor survival in cytopenic patients without hematological malignancies

Clonal chromosomal alterations (CCAs) reflect recurrent genetic changes derived from a single evolving clone, whereas nonclonal chromosomal alterations (NCCAs) comprise a single or nonrecurrent chromosomal abn...

Authors: Osamu Imataki, Hiroyuki Kubo, Akihiro Takeuchi, Makiko Uemura and Norimitsu Kadowaki

Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal pr...

Authors: Rulin Dai, Yang Yu, Qi Xi, Xiaonan Hu, Haibo Zhu, Ruizhi Liu and Ruixue Wang

Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review

46,XX male syndrome is a rare disorder that usually causes infertility. This study was established to identify the genetic causes of this condition in a series of 46,XX males through the combined application o...

Authors: Fagui Yue, Hongguo Zhang, Qi Xi, Yuting Jiang, Leilei Li, Ruizhi Liu and Ruixue Wang

Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis

Chromoanagenesis events encompassing chromoanasynthesis, chromoplexy, and chromothripsis are described in cancers and can result in highly complex chromosomal rearrangements derived from ‘all-at-once’ catastro...

Authors: Mary A. Gudipati, Elizabeth Waters, Carol Greene, Nidhi Goel, Nicole L. Hoppman, Beth A. Pitel, Matthew R. Webley and Ying Zou

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 ...

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

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...

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

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 ...

Authors: Jun Mao, Huiling Wang, Haibo Li, Xiaoyan Song, Ting Wang, Jingjing Xiang and Hong Li

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...

Authors: Ting Wang, Congmian Ren, Dan Chen, Jian Lu, Li Guo, Laiping Zheng, Yuan Liu and Hanbiao Chen

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...

Authors: Guangping Wu, Rong Li, Chao Tong, Miaonan He, Zhiwei Qi, Huijuan Chen, Tao Deng, Hailiang Liu and Hongbo Qi

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 ...

Authors: Reinhard Stindl

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...

Authors: Xiaoqing Wu, Liangpu Xu, Ying Li, Na Lin, Linjuan Su, Meiying Cai, Xiaorui Xie, Lin Zheng, Hailong Huang and Yuan Lin

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...

Authors: Liliana Fernández-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

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...

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

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...

Authors: Ilda Patrícia Ribeiro, Joana Barbosa de Melo and Isabel Marques Carreira

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/RARα genes as a result of t(15;17)(q24;q21). APL is now one of the curable hematological malignancies thanks to molecularly targeted therapi...

Authors: Filomena Nozza, Gabriella Vona, Stefania Trino, Fiorella D’Auria, Francesco La Rocca, Vitina Grieco, Luciana Possidente, Luciana De Luca and Pellegrino Musto

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...

Authors: Shaobin Lin, Shanshan Shi, Linhuan Huang, Ting Lei, Danlei Cai, Wenlong Hu, Yi Zhou and Yanmin Luo

Abstracts of the 12^th European Cytogenomics Conference 2019

Authors:

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...

Authors: Ying Xue, Guodong Zhao, Hong Li, Qin Zhang, Jiafeng Lu, Bin Yu and Ting Wang

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...

Authors: Christoph Standfuß, Jonas Parczyk, Jerome Ruhnau and Andreas Klein

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 ...

Authors: Olga Tšuiko, Tuuli Dmitrijeva, Katrin Kask, Pille Tammur, Neeme Tõnisson, Andres Salumets and Tatjana Jatsenko

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...

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

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...

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

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...

Authors: Chen-Zhao Lin, Bi-Ru Qi, Jian-Su Hu, Yu-Dian Huang and Xiu-Qiong Huang

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.

Authors: Şule Altıner and Nüket Yürür Kutlay

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 ...

Authors: Sina Hemmer, Steffi Urbschat, Joachim Oertel and Ralf Ketter

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...

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

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 ...

Authors: John C. Herriges, Sarah L. Dugan and Allen N. Lamb

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...

Authors: Shanning Wan, Yunyun Zheng, Yinghui Dang, Tingting Song, Biliang Chen and Jianfang Zhang

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...

Authors: Tigran Harutyunyan, Galina Hovhannisyan, Anzhela Sargsyan, Bagrat Grigoryan, Ahmed H. Al-Rikabi, Anja Weise, Thomas Liehr and Rouben Aroutiounian

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...

Authors: Andréa E. Tijhuis, Sarah C. Johnson and Sarah E. McClelland

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.

Authors: Xiaofei Cheng, Qifang Yang, Jun Liu, Juan Ye, Huiying Xiao, Gaimei Zhang, Yuanyuan Pan, Xia Li, Ruifeng Hao and Yinfeng Li

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...

Authors: Yingjin Yi, Ke Zheng, Shunzong Ning, Laibin Zhao, Kai Xu, Ming Hao, Lianquan Zhang, Zhongwei Yuan and Dengcai Liu

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.

Authors: Christopher Cherniak and Raul Rodriguez-Esteban

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...

Authors: Huili Xue, Hailong Huang, Yan Wang, Gang An, Min Zhang, Liangpu Xu and Yuan Lin

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...

Authors: Jiadi Wen, Kathleen Comerford, Zhiyong Xu, Weiqing Wu, Katherine Amato, Brittany Grommisch, Autumn DiAdamo, Fang Xu, Hongyan Chai and Peining Li

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...

Authors: Jie Wang, Dong Li, Zhipeng Xu, Zhenyu Diao, Jianjun Zhou, Fei Lin and Ningyuan Zhang

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...

Authors: Dongsook Lee, Sohyun Na, Surim Park, Sanghee Go, Jinyoung Ma, Soonha Yang, Kichul Kim, Seunggwan Lee and Doyeong Hwang

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...

Authors: Zhengyou Miao, Xia Liu, Furong Hu, Ming Zhang, Pingli Yang and Luming Wang

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...

Authors: Zhiwen Shi, Shuxia Chen, Xiao Han, Rui Peng, Jin Luo, Luming Yang, Yufang Zheng and Hongyan Wang

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...

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

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...

Authors: Franck Pellestor

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...

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

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...

Authors: Ivan Y. Iourov, Svetlana G. Vorsanova and Yuri B. Yurov

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...

Authors: Angela Brown, Isabella Sciascia-Visani, Dianna Farrell, Meg Smith, Clive Felix, Vanaja Mutharajah, Jackie Ruell and Graeme Taylor

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...

Authors: María Paulina Nava-Rodríguez, Martín Daniel Domínguez-Cruz, Lilia Beatriz Aguilar-López, César Borjas-Gutiérrez, María Teresa Magaña-Torres and Juan Ramón González-García

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...

Authors: Yuan Liu, Li Guo, Hanbiao Chen, Jian Lu, Jingjing Hu, Xianzheng Li, Xing Li, Ting Wang, Fengzhen Li and Aihua Yin

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...

Authors: Sandrine Chamayou, Maria Sicali, Debora Lombardo, Carmelita Alecci and Antonino Guglielmino