Articles

Copy number variations associated with fetal congenital kidney malformations

Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe. This stud...

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

Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma

Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, and 13. However, reports on NIPT performance in sex chromosome aneuploidies (SCA) based on real...

Authors: Yipeng Wang, Shanshan Li, Wei Wang, Yuan Dong, Meng Zhang, Xin Wang and Chenghong Yin

Non-invasive prenatal screening for Emanuel syndrome

The aim of this study was to validate the results of two Emanuel syndromes detected by non-invasive prenatal screening (NIPS) screening using invasive methods, providing clinical performance of NIPS on chromos...

Authors: Yuqin Luo, Jie Lin, Yixi Sun, Yeqing Qian, Liya Wang, Min Chen, Minyue Dong and Fan Jin

Retrospective analysis of the clinical features of 172 patients with BCR-ABL1-negative chronic myeloproliferative neoplasms

To explore the clinical features of the patients with BCR-ABL1-negative chronic myeloproliferative neoplasms (MPNs) in our hospital and to reveal the unique features of BCR-ABL1-negative MPNs patients in our cent...

Authors: Xiaolan Lin, Huifang Huang and Ping Chen

Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome

Fetal cells collected from the amniotic fluid of two pregnant women indicated sex chromosome abnormalities. Therefore, we performed G-banded chromosome karyotype analysis, single nucleotide polymorphism array ...

Authors: Si He, Hui Xi, Jing Chen, Dan Wang, Jialun Pang, Jiancheng Hu, Qin Liu, Zhengjun Jia and Hua Wang

Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report

This study aimed to report a fetus with maternal partial trisomy 9p and 14q and the phenotype detected in ultrasound.

Authors: J. B. Wu, J. Sha, J. F. Zhai, Y. Liu and B. Zhang

Non-invasive prenatal test to screen common trisomies in twin pregnancies

Recent years have witnessed a shift from invasive methods of prenatal screening to non-invasive strategies. Accordingly, non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma has ga...

Authors: Mahtab Motevasselian, Soraya Saleh Gargari, Sarang Younesi, Parichehr Pooransari, Pourandokht Saadati, Masoomeh Mirzamoradi, Shahram Savad, Mohammad Mahdi Taheri Amin, Mohammad-Hossein Modarresi, Maryam Afrakhteh and Soudeh Ghafouri-Fard

Acute myeloid leukemia with inv(16)(p13.1q22) and deletion of the 5’MYH11/3’CBFB gene fusion: a report of two cases and literature review

Abnormalities of chromosome 16 are found in about 5–8% of acute myeloid leukemia (AML). The AML with inv(16)(p13.1q22) or t (16;16)(p13.1;q22) is associated with a high rate of complete remission (CR) and favo...

Authors: Lili Lv, Jingwei Yu and Zhongxia Qi

Chromoanagenesis: a piece of the macroevolution scenario

Over the last decade, new types of massive and complex chromosomal rearrangements based on the chaotic shattering and restructuring of chromosomes have been identified in cancer cells as well as in patients wi...

Authors: Franck Pellestor and Vincent Gatinois

Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities

Cordocentesis in our practice is most commonly indicated for rapid karyotyping in the second or third trimester and is regarded as the gold standard for foetal chromosomal aberration diagnosis in pregnancies a...

Authors: Yanmei Sun, Pingping Zhang, Ning Zhang, Limin Rong, Xiaoping Yu, Xianghua Huang and Yali Li

Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype

Clonal chromosome changes are often found in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS). The most frequent ones include an isochromosome of the long arm of chromosome 7, i (7)(q10),...

Authors: Abdul Waheed Khan, Antonella Minelli, Annalisa Frattini, Giuseppe Montalbano, Alessia Bogni, Marco Fabbri, Giovanni Porta, Francesco Acquati, Rita Maria Pinto, Elena Bergami, Rossella Mura, Anna Pegoraro, Simone Cesaro, Marco Cipolli, Marco Zecca, Cesare Danesino…

Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes

Isodicentric Y chromosomes [idic(Y)] are one of the most common structural abnormalities of the Y chromosome. The prenatal diagnosis of isodicentric Y chromosomes is of vital importance, and the postnatal phen...

Authors: Yang Yang and Wang Hao

Laundering CNV data for candidate process prioritization in brain disorders

Prioritization of genomic data has become a useful tool for uncovering the phenotypic effect of genetic variations (e.g. copy number variations or CNV) and disease mechanisms. Due to the complexity, brain diso...

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

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing

Chromosome 18p deletion syndrome is a disease caused by the complete or partial deletion of the short arm of chromosome 18, there were few cases reported about the prenatal diagnosis of 18p deletion syndrome. ...

Authors: Ganye Zhao, Peng Dai, Shanshan Gao, Xuechao Zhao, Conghui Wang, Lina Liu and Xiangdong Kong

The variome concept: focus on CNVariome

Variome may be used for designating complex system of interplay between genomic variations specific for an individual or a disease. Despite the recognized complexity of genomic basis for phenotypic traits and ...

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

A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder. The phenotype heterogeneity depends on the deletion size, breakpoints and genes deleted. Critical genes like FOXG1, NKX2–1, PAX9 we...

Authors: Xuyun Hu, Jun Liu, Ruolan Guo, Jun Guo, Zhipeng Zhao, Wei Li, Baoping Xu and Chanjuan Hao

A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication

Copy number variations (CNVs) can contribute to human phenotype, phenotypic diversity and disease susceptibility, while others may benign. In the current study, an attempt to investigate the pathogenicity of C...

Authors: Jianlong Zhuang, Yuanbai Wang, Shuhong Zeng, Chunling Lv, Yiming Lin and Yuying Jiang

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