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https://www.readbyqxmd.com/read/28220983/clinical-and-molecular-cytogenetic-analyses-of-four-families-with-1q21-1-microdeletion-or-microduplication
#1
Hong-Dan Wang, Lin Liu, Dong Wu, Tao Li, Cun-Ying Cui, Lian-Zhong Zhang, Cheng-Zeng Wang
BACKGROUND: Little information is available regarding penetrance of the 1q21.1 copy number variants (CNVs). We explored the clinical significance of 1q21.1 microdeletion or microduplication. METHODS: In four families, chromosome karyotype was analyzed using G-banding karyotype analysis technology, CNVs were detected using array-comparative genomic hybridization (aCGH), and then quantitative polymerase chain reaction (qPCR) was used to validate candidate CNVs. Sequence signature in the breakpoint region was analyzed using UCSC databases...
February 21, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28209493/quantitative-analysis-of-fetal-facial-morphology-using-3d-ultrasound-and-statistical-shape-modelling-a-feasibility-study
#2
Andrea Dall'Asta, Silvia Schievano, Jan L Bruse, Gowrishankar Paramasivam, Christine Tita Kaihura, David Dunaway, Christoph C Lees
BACKGROUND: The antenatal detection of facial dysmorphism using three-dimensional ultrasound may raise the suspicion of an underlying genetic conditions but infrequently leads to a definitive antenatal diagnosis. Despite advances in array and non invasive prenatal testing, not all genetic conditions can be ascertained from such testing. OBJECTIVES: The aim of this study was to investigate the feasibility of quantitative assessment of fetal face features using prenatal three-dimensional ultrasound volumes and statistical shape modelling...
February 13, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28186603/-prenatal-genetic-analysis-of-two-fetuses-with-miller-dieker-syndrome
#3
Shaobin Lin, Yanmin Luo, Jianzhu Wu, Baojiang Chen, Yuanjun Ji, Yi Zhou
OBJECTIVE: To perform molecular cytogenetic study on two fetuses with abnormal ultrasound findings and analyze their genotype-phenotype correlation. METHODS: G-banded karyotyping, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed on amniotic fluid cells from both fetuses and peripheral blood samples from their parents. Results of SNP array were analyzed with bioinformatics software. RESULTS: G-banded karyotyping failed to detect any abnormalities in both fetuses and their parents...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28165153/fetal-right-aortic-arch-associated-anomalies-genetic-anomalies-with-chromosomal-microarray-analysis-and-postnatal-outcome
#4
Ruan Peng, Hong-Ning Xie, Ju Zheng, Yi Zhou, Mei-Fang Lin
OBJECTIVES: To assess the associated prenatal findings, genetic anomalies with chromosomal microarray analysis (CMA) and postnatal outcome of fetal right aortic arch (RAA). METHODS: This retrospective study reviewed 92 fetuses diagnosed with RAA and the findings of CMA using Affymetrix CytoScan HD array in our institution between 2013 and 2016. RESULTS: Postnatal data were not available for six cases and genetic data were not available for 26 cases...
February 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28165010/limb-proportions-show-developmental-plasticity-in-response-to-embryo-movement
#5
A S Pollard, B G Charlton, J R Hutchinson, T Gustafsson, I M McGonnell, J A Timmons, A A Pitsillides
Animals have evolved limb proportions adapted to different environments, but it is not yet clear to what extent these proportions are directly influenced by the environment during prenatal development. The developing skeleton experiences mechanical loading resulting from embryo movement. We tested the hypothesis that environmentally-induced changes in prenatal movement influence embryonic limb growth to alter proportions. We show that incubation temperature influences motility and limb bone growth in West African Dwarf crocodiles, producing altered limb proportions which may, influence post-hatching performance...
February 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28157578/chromosomal-uniparental-disomy-16-and-fetal-intrauterine-growth-restriction
#6
Xie Yingjun, Hu Zhiyang, Lin Linhua, Su Fangming, Huang Linhuan, Tan Jinfeng, Pang Qianying, Sun Xiaofang
BACKGROUND: There is a well-documented association between prenatally diagnosed chromosomal uniparental disomy and poor pregnancy outcome. METHODS AND RESULT: In this study, we identified an intrauterine growth restricted fetus carrying a maternal UPD 16 with segmental hetero- and isodisomy using the Affymetrix CytoScan HD SNP-array and the UPDtool. We also performed FISH to exclude trisomy mosaicism of chr.16. We then explored the genetic mechanisms of how imprinted genes cause clinical abnormalities...
December 23, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28040139/prenatal-diagnosis-of-paternal-duplication-of-11p15-5%C3%A2-14-3-its-implication-of-beckwith-wiedemann-syndrome
#7
Kuan Ju Chen, Yu Mei Liu, Chien Hong Li, Yao Lung Chang, Shuenn Dyh Chang
OBJECTIVE: To characterize a prenatally detected chromosomal aberration with molecular cytogenetic approaches and explore its relationship with Beckwith-Wiedemann syndrome (BWS). CASE REPORT: A 33-year-old woman, gravida 2, para 0, was referred to our prenatal clinic at 20+ weeks due to an abnormal amniocentesis karyotyping finding, which showed 46,XY,add(11)(q24.2)dn. The mother conceived through in vitro fertilization-intracytoplasmic sperm injection (IVF-ICSI), then embryo transfer...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28040137/prenatal-diagnosis-of-familial-transmission-of-17q12-microduplication-associated-with-no-apparent-phenotypic-abnormality
#8
Chih-Ping Chen, Chung-Hu Fu, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of familial transmission of 17q12 duplication associated with no apparent phenotypic abnormality. CASE REPORT: A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Array comparative genomic hybridization of uncultured amniocytes revealed a 1.42-Mb duplication of 17q12 or arr 17q12 (34,822,465-36,243,365) × 3 encompassing 12 Online Mendelian Inheritance in Man (OMIM) genes including LHX1, ACACA, and HNF1B...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28040136/clinical-findings-and-molecular-cytogenetic-study-of-de-novo-pure-chromosome-9p-deletion-pre-and-postnatal-diagnosis
#9
Qiao-Fang Hou, Dong Wu, Yan Chu, Shi-Xiu Liao
OBJECTIVE: The aim of this report is to describe the phenotype-genotype correlation of chromosome 9p deletion syndrome cases, particularly the prenatal cases. MATERIALS AND METHODS: A 30-year-old woman was referred to a hospital at 19(+1) weeks of gestation because of omphalocele detected in the fetus. The conventional karyotyping analysis and array comparative genomic hybridization (aCGH) were utilized for the prenatal diagnosis and genetic counseling in the fetus...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28040135/pallister-killian-syndrome-cytogenetics-and-molecular-investigations-of-mosaic-tetrasomy-12p-in-prenatal-chorionic-villus-and-in-amniocytes-strategy-of-prenatal-diagnosis
#10
Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino
OBJECTIVE: Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, and a variety of congenital malformations. Prenatally, PKS can be suspected in the presence of ultrasound anomalies: diaphragmatic hernia, rhizomelic micromelia, hydrops fetalis, fetal overweight, ventriculomegaly in the central nervous system, congenital heart defects, or absent visualization of the stomach...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28040132/molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-8-or-r-8-p12%C3%A2-q13-1-associated-with-phenotypic-abnormalities
#11
Chih-Ping Chen, Shuan-Pei Lin, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Wen-Lin Chen, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. MATERIALS AND METHODS: A 35-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar[20]/46,XY[39]. However, array comparative genomic hybridization analysis on the subcultured amniocytes revealed no genomic imbalance. Prenatal ultrasound showed bilateral ventriculomegaly, intrauterine growth restriction, and an enlarged right atrium...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27996923/a-framework-for-unrestricted-prenatal-whole-genome-sequencing-respecting-and-enhancing-the-autonomy-of-prospective-parents
#12
Stephanie C Chen, David T Wasserman
Noninvasive, prenatal whole genome sequencing (NIPW) may be a technological reality in the near future, making available a vast array of genetic information early in pregnancy at no risk to the fetus or mother. Many worry that the timing, safety, and ease of the test will lead to informational overload and reproductive consumerism. The prevailing response among commentators has been to restrict conditions eligible for testing based on medical severity, which imposes disputed value judgments and devalues those living with eligible conditions...
January 2017: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/27984613/-detection-of-a-fetus-with-paternally-derived-2q37-3-microdeletion-and-20p13p12-2-microduplication-using-whole-genome-microarray-technology
#13
Lin Zhang, Meihong Ren, Guining Song, Xuexia Liu, Jianliu Wang, Xiaohong Zhang
OBJECTIVE: To perform prenatal diagnosis for a fetus with multiple malformations. METHODS: The fetus was subjected to routine karyotyping and whole genome microarray analysis. The parents were subjected to high-resolution chromosome analysis. RESULTS: Fetal ultrasound at 28+4 weeks has indicated intrauterine growth restriction, left kidney agenesis, right kidney dysplasia, ventricular septal defect, and polyhydramnios. Chromosomal analysis showed that the fetus has a karyotype of 46,XY,der(2),der(20), t(2;20)(q37...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27984599/-application-of-chromosome-microarray-analysis-for-fetuses-with-multicystic-dysplastic-kidney
#14
Feifei Chen, Tingying Lei, Fang Fu, Ru Li, Yongling Zhang, Xiangyi Jing, Xin Yang, Jin Han, Li Zhen, Min Pan, Can Liao
OBJECTIVE: To explore the genetic etiology of fetuses with multicystic dysplastic kidney (MCDK) by chromosome microarray analysis (CMA). METHODS: Seventy-two fetuses with MCDK were analyzed with conventional cytogenetic technique, among which 30 fetuses with a normal karyotype were subjected to CMA analysis with Affymetrix CytoScan HD arrays by following the manufacturer's protocol. The data was analyzed with ChAS software. RESULTS: Conventional cytogenetic technique has revealed three fetuses (4...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27931090/prenatal-diagnosis-of-susceptibility-loci-for-neurodevelopmental-disorders-genetic-counseling-and-pregnancy-outcome-in-57-cases
#15
Lutgarde Govaerts, Malgorzata Srebniak, Karin Diderich, Marieke Joosten, Sam Riedijk, Maarten Knapen, Attie Go, Dimitri Papatsonis, Katja de Graaf, Toon Toolenaar, Sanne van der Steen, Gido Huijbregts, Jeroen Knijnenburg, Femke de Vries, Diane Van Opstal, Robert-Jan Galjaard
BACKGROUND: Whole genome array testing not only provides an increased diagnostic yield of pathogenic causative findings, but it may also reveal so called susceptibility loci (SL) for neurodevelopmental disorders. The goal of this study was to evaluate the pregnancy outcomes in SL cases and to establish a protocol for pregnancy management, follow-up and additional investigations. METHODS: Fifty seven cases were evaluated: 34 with and 23 without ultrasound anomalies at referral...
January 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27930557/application-of-array-comparative-genomic-hybridization-in-tetralogy-of-fallot
#16
Lin Liu, Hong-Dan Wang, Cun-Ying Cui, Dong Wu, Tao Li, Tai-Bing Fan, Bang-Tian Peng, Lian-Zhong Zhang, Cheng-Zeng Wang
To explore the underlying pathogenesis and provide references for genetic counseling and prenatal gene diagnosis, we analyzed the chromosome karyotypes and genome-wide copy number variations (CNVs) in 86 patients with tetralogy of Fallot (TOF) by G-banding karyotype analysis and array-comparative genomic hybridization (aCGH), respectively. And then quantitative polymerase chain reaction was used to validate these candidate CNVs. Based on their different properties, CNVs were categorized into benign CNVs, suspiciously pathogenic CNVs, and indefinite CNVs...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27922636/dna-methylation-and-substance-use-risk-a-prospective-genome-wide-study-spanning-gestation-to-adolescence
#17
C A M Cecil, E Walton, R G Smith, E Viding, E J McCrory, C L Relton, M Suderman, J-B Pingault, W McArdle, T R Gaunt, J Mill, E D Barker
Epigenetic processes have been implicated in addiction; yet, it remains unclear whether these represent a risk factor and/or a consequence of substance use. Here, we believe we conducted the first genome-wide, longitudinal study to investigate whether DNA methylation patterns in early life prospectively associate with substance use in adolescence. The sample comprised of 244 youth (51% female) from the Avon Longitudinal Study of Parents and Children (ALSPAC), with repeated assessments of DNA methylation (Illumina 450k array; cord blood at birth, whole blood at age 7) and substance use (tobacco, alcohol and cannabis use; age 14-18)...
December 6, 2016: Translational Psychiatry
https://www.readbyqxmd.com/read/27891191/birth-weight-for-gestational-age-is-associated-with-dna-methylation-at-birth-and-in-childhood
#18
Golareh Agha, Hanine Hajj, Sheryl L Rifas-Shiman, Allan C Just, Marie-France Hivert, Heather H Burris, Xihong Lin, Augusto A Litonjua, Emily Oken, Dawn L DeMeo, Matthew W Gillman, Andrea A Baccarelli
BACKGROUND: Both higher and lower fetal growth are associated with cardio-metabolic health later in life, suggesting that prenatal developmental programming determines long-term cardiovascular disease risk. Epigenetic mechanisms, which orchestrate fetal growth and development, may offer insight on the early programming of health and disease. We investigated whether birth weight-for-gestational is associated with DNA methylation at birth and mid-childhood, measured via the Infinium 450K array...
2016: Clinical Epigenetics
https://www.readbyqxmd.com/read/27885054/impact-of-uteroplacental-insufficiency-on-postnatal-rat-male-gonad
#19
Valentina Pampanini, Daniela Germani, Antonella Puglianiello, Jan-Bernd Stukenborg, Ahmed Reda, Iuliia Savchuk, Kristín Rós Kjartansdóttir, Stefano Cianfarani, Olle Söder
Prenatal events such as intrauterine growth restriction can affect gonadal development of the offspring and have an impact on reproductive health. To investigate the effects of intrauterine growth restriction induced by uterine artery ligation on the postnatal rat testis. Pregnant rats underwent uterine artery ligation at day 19 of gestation. Offspring were killed at 5, 20 and 40 days post-partum (dpp). At killing, one gonad was snap-frozen in liquid nitrogen and processed for RNA and steroid extraction. The other gonad was formalin-fixed for histology...
February 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/27884779/gene-targeted-next-generation-sequencing-identifies-pnpla1-mutations-in-patients-with-a-phenotypic-spectrum-of-autosomal-recessive-congenital-ichthyosis-the-impact-of-consanguinity
#20
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Sirous Zeinali, Parvin Mansouri, Soheila Sotoudeh, Mohammadreza Barzegar, Javad Mohammadi-Asl, Razieh Karamzadeh, Maryam Abiri, Kevin McCormick, Paolo Fortina, Jouni Uitto
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders associated with mutations in at least nine distinct genes. To ascertain the molecular basis of ichthyosis patients in Iran, a country of ∼80 million people with high prevalence of customary consanguineous marriages, we have developed a gene targeted next generation sequencing array consisting of 38 genes reported in association with ichthyosis phenotypes. In a subset of nine extended consanguineous families we found homozygous missense mutations in the PNPLA1 gene, six of them being distinct and previously unpublished...
November 21, 2016: Journal of Investigative Dermatology
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