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Hu Hua H Center for Prenatal Diagnosis, Department of Obstetrics and Gynecology, Southwest Hospital, Third Military Medical University, ChongQing, People's Republic of - - 2014
We examined a man and his daughter, who both had different jumping translocation karyotypes. The man's wife was pregnant and had been referred for prenatal diagnosis of the fetus. The karyotype of the husband's peripheral blood lymphocytes was 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10]. The karyotype of the daughter's ...
Du Liu L Department of Ultrasonic Medicine and Fetal Medical Centre, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, - - 2014
To determine and compare the prevalence of persistent left superior vena cava (PLSVC) in chromosomally normal and abnormal fetuses and to evaluate the potential of PLSVC as a screening marker for chromosomal abnormalities. Women undergoing routine fetal sonographic examinations were evaluated once for the presence of PLSVC. PLSVC was diagnosed ...
Liu Yukun Y Department of Obstetrics and Gynecology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, People's Republic of - - 2014
Objective The objective of this study was to compare the frequency and distribution of chromosomal abnormalities with different crown-rump length (CRL) and maternal serum human chorionic gonadotropin (HCG) levels in early miscarriages. Study Design Pregnancies in which a miscarriage occurred at ≤ 12 weeks' gestation and received karyotyping of chorionic villus after curettage from ...
Fulka Helena H Institute of Animal Science, CZ 104 01 Prague, Czech - - 2014
The oocyte (maternal) nucleolus is essential for early embryonic development and embryos originating from enucleolated oocytes arrest at the 2-cell stage. The reason for this is unclear. Surprisingly, RNA polymerase I activity in nucleolus-less mouse embryos, as manifested by pre-rRNA synthesis, and pre-rRNA processing are not affected, indicating an unusual ...
Gezer C C Department of Perinatology, Izmir Tepecik Training and Research Hospital , ─░zmir , - - 2014
Ventriculomegaly (VM) is a marker of aneuploidy and warrants a detailed examination of fetal anatomy. Chromosomal abnormalities worsen the fetal and neonatal prognosis significantly and karyotyping of fetuses is critically important when accompanying anomalies are detected. Here, we report the genetic results of 140 fetuses with isolated and non-isolated VM ...
Brown Lindsay A LA Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, - - 2014
Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and postnatal growth retardation, dysmorphic facial features and body asymmetry. Both hypomethylation of the telomeric imprinting control region 1 (ICR1) at 11p15.5 and maternal duplication of 11p15.5 have been implicated in the etiology of this disorder. Here we report the ...
Harper Lorie M LM Department of Obstetrics and Gynecology, The University of Alabama at Birmingham, Birmingham, - - 2014
When congenital anomalies are diagnosed on prenatal ultrasound, the current standard of care is to perform G-banded karyotyping on cultured amniotic cells. Chromosomal microarray (CMA) can detect smaller genomic deletions and duplications than traditional karyotype analysis. CMA is the first-tier test in the postnatal evaluation of children with multiple congenital ...
Porreco Richard P - - 2014
The objective of this study was to validate the clinical performance of massively parallel genomic sequencing (MPS) of cell-free DNA contained in specimens from pregnant women at high risk for fetal aneuploidy to test fetuses for trisomies 21, 18, 13, fetal sex and the common sex chromosome aneuploidies (45, X; ...
Luteijn Johannes Michiel JM Institute of Nursing Research/School of Nursing, University of Ulster, Jordanstown Campus, Newtownabbey, United - - 2014
This study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation to etiologic factors. Methods: Data on ...
Haoud K K UFR médecine, cytologie, histologie, embryologie cytogénétique, université Clermont 1, 63001 Clermont-Ferrand, France; Service de cytogénétique médicale, CHU d'Estaing, 1, place Lucie-et-Raymond-Aubrac, 63003 Clermont-Ferrand cedex 1, France; ERTICA EA4677, UFR médecine, université Clermont 1, 63003 Clermont-Ferrand, France; Laboratoire de biotoxicologie, université Djillali Liabès, BP 89, Faubourg Larbi Ben M'Hidi, Sidi Bel Abbès, - - 2014
Spontaneous abortion (SA) is the loss of the conceptus before 22 weeks of gestation when fetal weight is less than 500g. The genetic etiology accounts for more than two third of SA, and autosomal aneuploidies alone account for up to 70% fetal loss. The aim of this study was to ...
Wentzel Christian C Department of Immunology, Genetics and Pathology, Rudbeck and Science for Life laboratory, Uppsala University, SE-751 85 Uppsala, - - 2014
Here we report a case of two siblings with reciprocal aberrations, one presenting with a deletion and the other carrying two novel duplications at 6q13q16.1. Interestingly, both alterations were inherited from a healthy mother carrying a non-reciprocal translocation of 6q13q16 to 15q11. Deletions at 6q13q16.1 have been previously described; however ...
Finn Elizabeth H EH Department of Genetics, Stanford University School of Medicine, Stanford CA, - - 2014
To investigate the epigenetic landscape at the interface between mother and fetus, we provide a comprehensive analysis of parent-of-origin bias in the mouse placenta. Using F1 interspecies hybrids between mus musculus (C57BL/6J) and mus musculus castaneus, we sequenced RNA from 23 individual midgestation placentas, five late stage placentas, and two ...
Alperovich Michael M From the Department of Plastic Surgery, New York University Medical Center, New York, New - - 2014
We report a case of lipoblastoma of the hand in a 19-month-old female patient with a history of cleft palate. The incidence of lipoblastoma and cleft palate individually is extremely rare. To the best of our knowledge, only 1 other case of a patient with both cleft palate and lipoblastoma ...
Younkin Samuel G - - 2014
Copy number variants (CNVs) may play an important part in the development of common birth defectssuch as oral clefts, and individual patients with multiple birth defects (including clefts) have beenshown to carry small and large chromosomal deletions. In this paper we investigate de novo deletionsdefined as DNA segments missing in ...
Sifakis Stavros S Department of Obstetrics and Gynecology, University Hospital of Heraklion, Heraklion, Crete, - - 2014
Partial trisomy of the long arm of chromosome 1 (1q) is an exceptionally rare chromosomal abnormality and most of the prenatally diagnosed cases are associated with either complete (q11-qter) or large (q21-qter) duplications with pre- or perinatal demise of all reported cases. The most common sonographic findings associated with this ...
Hooks J J Ariosa Diagnostics, Inc., San Jose, CA, - - 2014
To assess the performance of a directed chromosomal analysis approach in the prenatal evaluation of fetal sex chromosome aneuploidy. We analyzed 432 frozen maternal plasma samples obtained from patients prior to undergoing fetal diagnostic testing. The cohort included women greater than 18 years of age with a singleton pregnancy of greater ...
Valdes-Miranda Juan Manuel JM Servicio de Genética, Hospital General de - - 2014
Microdeletions of the long arm of chromosome 13 lead to a characteristic facial appearance with systemic affection; 13q deletion shows a wide phenotypic spectrum that varies with respect to the location and size of the deletion region. The main clinical features are mental retardation, growth retardation, craniofacial dysmorphy and various ...
Ekin A A Department of - - 2014
The aim of this study is to evaluate the frequency and types of associated anomalies with the results of ultrasonographic and postmortem examination and identify the necessity of prenatal karyotyping among fetuses with open neural tube defects (NTD). Fetuses diagnosed with NTDs between 2008 and 2012 were retrospectively analysed. A ...
Somsen David D Sanford School of Medicine of the University of South Dakota, Sioux Falls, South - - 2014
Congenital Nasal Pyriform Aperture Stenosis (CNPAS) is a rare congenital malformation caused by overgrowth of the maxillary bone. We report on two patients, brothers born 3 and 1½ years apart, both presented at birth with radiographically diagnosed CNPAS. Both siblings also were born with ocular albinism, which is known to ...
Briand-Suleau A A AP-HP, Service de Biochimie-Génétique, Plateforme de Génétique Constitutionnelle, Hôpital H. Mondor, Créteil, France; INSERM U955, Plateforme de Génétique Constitutionnelle, Hôpital H. Mondor, Créteil, - - 2014
Interstitial duplication within the long arm of chromosome 20 is an uncommon chromosome structural abnormality. We report here the clinical and molecular characterization associated with pure 20q13.2 duplication in three unrelated patients. The most frequent clinical features were developmental delay, facial dysmorphism, cardiac malformation and skeletal anomalies. All DNA gains ...
Fukai Ryoko R Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, - - 2014
Monosomy 21 is a very rare chromosomal abnormality. At least 45 patients with partial deletion involving 21q11 have been reported. Here, we report a Japanese boy who presented with pre- and postnatal growth delays, psychomotor developmental delay, microcephaly, and iris coloboma. Cytogenetic analysis revealed a de novo 1.4-Mb deletion at ...
Al-Kateb Hussam H Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, - - 2014
The typical chromosome 16p11.2 rearrangements are estimated to occur at a frequency of approximately 0.6% of all samples tested clinically and have been identified as a major cause of autism spectrum disorders, developmental delay, behavioral abnormalities, and seizures. Careful examination of patients with these rearrangements revealed association with abnormal head ...
Posmyk Renata R Podlaskie Center of Clinical Genetics, Bialystok, Bialystok, - - 2014
We report on a de novo interstitial deletion of 20q11.21-q11.23 in a 2-year-old girl with a set of dysmorphic features, cleft palate, heart defect, severe feeding problems, failure to thrive, developmental delay, preaxial polydactyly (right thumb), and retinal dysplasia. Interstitial microdeletions of the long arm of chromosome 20 are rare. ...
Blair J D JD Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada V5Z 4H4; Child & Family Research Institute, Vancouver, BC, Canada V5Z - - 2014
Maternal preeclampsia is associated with altered placental development in the first trimester of pregnancy. Confined placental trisomy 16 mosaicism (CPM16) is a genetic abnormality of the placenta that is highly predisposing to preeclampsia. We previously demonstrated widespread alterations in DNA methylation in 3rd trimester placentae associated with chromosomally normal early-onset ...
Chang Chia-Wei CW Department of Obstetrics and Gynecology, National Chen-Kung University Hospital and College of Medicine, Tainan, - - 2014
To identify Prader-Willi syndrome (PWS) and Angelman syndrome (AS) among fetuses with suspicious deletion of the chromosomal region 15q11-q13. In a retrospective study, data were assessed from fetuses missing chromosomal band 15q12 that underwent molecular diagnosis at the National Chen-Kung University Hospital, Tainan, Taiwan, between January 2001 and December 2012. ...
Akiyama Kouyou K Graduate School of Environmental and Life Science, Okayama University, 1-1-1 Tsushima-naka, Okayama 700-8530, - - 2014
The development of the axial skeleton is a complex process, consisting of segmentation and differentiation of somites and ossification of the vertebrae. The autosomal recessive skeletal fusion with sterility (sks) mutation of the mouse causes skeletal malformations due to fusion of the vertebrae and ribs, but the underlying defects of ...
Chen Chih-Ping CP Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: - - 2013
We present prenatal diagnosis and molecular cytogenetic characterization of de novo pure trisomy 6p22.3→p25.3 encompassing BMP6 in a fetus associated with microcephaly and craniosynostosis on prenatal ultrasound, abnormal maternal serum biochemistry of a low PAPP-A level in the first-trimester combined test, and a karyotype of 46,XX,der(22)t(6;22)(p22.3;p13)dn. The present case demonstrates ...
Niknejadi Maryam M Department of Reproductive Imaging at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, - - 2014
Trisomy 18 (Edwards syndrome) is the second most common trisomy among live born fetuses, with poor prognosis. Estimate of its incidence is between 1 in 4000- 16000 live births. Most of the chromosomal abnormalities in fetuses are detected by prenatal ultrasound findings in the first and second trimesters. In this ...
Lau Tze Kin TK Fetal Medicine Centre, Paramount Medical Centre, Hong - - 2013
To review the performance of non-invasive prenatal testing (NIPT) by low coverage whole genome sequencing of maternal plasma DNA in a single center. The NIPT result and pregnancy outcome of 1982 consecutive cases were reviewed. The NIPT test was based on low coverage (0.1x) whole genome sequencing of maternal plasma ...
Nicolaides Kypros H KH Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, - - 2013
Objective: To examine the performance of chromosome-selective sequencing of cell-free (cf) DNA in maternal blood for assessment of fetal sex chromosome aneuploidies. Methods: This was a case-control study of 177 stored maternal plasma samples, obtained before fetal karyotyping at 11-13 weeks of gestation, from 59 singleton pregnancies with fetal sex ...
So Joyce - - 2013
Jacobsen syndrome (JS) is a disorder of developmental delay, growth retardation, thrombocytopenia, dysmorphic features, and cardiac abnormalities, among other congenital anomalies. JS is caused by contiguous gene deletion in distal chromosome 11q, generally varying in size from 7 to 20 Mb. Periventricular nodular heterotopia (PVNH) is a neuronal migration disorder in ...
Bakker Merel M Department of Obstetrics and Gynecology, Fetal Medicine Unit, University of Groningen, University Medical Centre Groningen, CB20, PO Box 30.001, 9700 RB Groningen, The Netherlands. Electronic address: - - 2013
Over the years, it has become clear that increased nuchal translucency is a marker for chromosomal abnormalities, and it is also associated with a wide spectrum of structural anomalies, genetic syndromes, a higher risk of miscarriage, and intrauterine fetal death. These risks are all proportionally related to the degree of ...
Bartnik Magdalena - - 2013
We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional neurodevelopmental abnormalities, and/or congenital malformations. In 69 patients, we identified 84 non-polymorphic copy-number variants, among which 41 are known to be ...
- - 2013
: Chromosomal microarray analysis is a technique that identifies chromosomal abnormalities, including submicroscopic abnormalities that are too small to be detected by conventional karyotyping. Like conventional fetal karyotyping, prenatal chromosomal microarray analysis requires direct testing of fetal tissue and thus can be offered only with chorionic villus sampling or amniocentesis. ...
Kotlabova Katerina - - 2013
Background & objectives: Trisomy 21 is the most common chromosomal aneuploidy in live born infants. Recently, the over expression of chromosome 21-derived microRNAs (miR-99a, let-7c, miR-125b-2, miR-155 and miR-802) in human fetal hippocampus and heart samples from individuals with Down syndrome was observed. Therefore, concentrations and expression profile of extracellular ...
Shaw S W Steven - - 2013
Objective: To evaluate the performance of noninvasive prenatal testing for all fetal chromosomal aneuploidies in an extremely high-risk group undergoing first trimester combined Down syndrome screening. Method: A multicenter cohort prospective study in Taiwan was performed between June and December 2012. Maternal plasma was collected and shotgun massive parallel sequencing ...
Stumm Markus - - 2013
To validate the diagnostic accuracy of a non-invasive prenatal test for detecting trisomies 13, 18 and 21 for a population in Germany and Switzerland. Random massively parallel sequencing (MPS) was applied using Illumina sequencing platform HiSeq2000. Fetal aneuploidies were identified using a Median Absolute Deviation based z-score equation. A bioinformatics ...
Al Ageeli Essam - - 2013
15q11-q13 region is an area of well-known susceptibility to genomic rearrangements, in which several breakpoints have been identified (BP1-BP5). Duplication of this region is observed in two instances: presence of a supernumerary marker chromosome (SMC) derived of chromosome 15 or interstitial tandem duplication. Duplications are clinically characterized by a variable ...
Miranda Joana O - - 2013
To analyse the main characteristics, associated conditions and outcome of right aortic arch (RAA) detected in fetal life, and to assess if further investigation is required in cases of isolated RAA. Retrospective observational study of all fetuses diagnosed with a RAA between 2004 and 2012 at a tertiary centre for ...
Wang Yanglin - - 2013
In the human fetus, sex chromosome aneuploidies (SCAs) are as prevalent as the common autosomal trisomies 21, 18, and 13. Currently, most noninvasive prenatal tests (NIPTs) offer screening only for chromosomes 21, 18, and 13, because the sensitivity and specificity are markedly higher than for the sex chromosomes. Limited studies ...
Cameron F - - 2013
Developmental delay occurs in 1-3% of the population, with unknown etiology in approximately 50% of cases. Initial genetic work up for developmental delay previously included chromosome analysis and subtelomeric FISH (fluorescent in situ hybridization). Array Comparative Genomic Hybridization (aCGH) has emerged as a tool to detect genetic copy number changes ...
Agodi A - - 2013
Background: To determine the incidence of chromosome abnormalities (CAs) in prenatal cytogenetic diagnosis, to describe and compare indications in Italian and migrant women, and to assess the level of compliance with published national guidelines. Methods: A retrospective analysis of 7806 amniotic fluid samples (AFS) and 228 chorionic villi samples (CVS) ...
Huang Shangyu - - 2013
The first trimester combined screening, which analyzes fetal nuchal translucency and levels of free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A) in maternal serum, is routinely used to detect abnormal pregnancies associated with Down syndrome and other trisomy aneuploidies. Based on the hypothesis that major chromosomal translocations ...
Brady Paul Daniel - - 2013
Purpose:To evaluate the clinical utility of chromosomal microarrays for prenatal diagnosis by a prospective study of fetuses with abnormalities detected on ultrasound.Methods:Patients referred for prenatal diagnosis due to ultrasound anomalies underwent analysis by array comparative genomic hybridization as the first-tier diagnostic test.Results:A total of 383 prenatal samples underwent analysis by ...
Marangi Giuseppe - - 2013
We describe a family in which four individuals (the mother and three children) presented with an overlapping phenotype of minor physical anomalies and intellectual disability. Four previously unreported copy number variants were found inherited either from the affected mother or from the healthy father, consisting of a 3p22.3p22.2 deletion (2.5 Mb), ...
Nicolaides Kypros H - - 2013
Objective: To investigate potential performance of cell-free DNA (cfDNA) testing in maternal blood in detecting fetal triploidy. Methods: Plasma and buffy coat samples obtained at 11-13 weeks' gestation from singleton pregnancies with diandric triploidy (n = 4), digynic triploidy (n = 4), euploid fetuses (n = 48) were sent to ...
Brandt Tracy - - 2013
Steroidogenic factor 1 (SF1) is a nuclear receptor encoded by the NR5A1 gene. SF1 affects both sexual and adrenal development through the regulation of target gene expression. Genotypic male and female SF1 knockout mice have adrenal and gonadal agenesis with persistent Müllerian structures and early lethality. There have been several ...
Corbacioglu Esmer Aytul - - 2013
Objective: The purpose of this study was to determine the frequency of chromosomal anomalies among the fetuses with isolated and non-isolated aberrant right subclavian artery (ARSA), and to evaluate the sonographic findings associated with ARSA. Methods: This is a retrospective study conducted during the period between January 2008 and December ...
Liao Can - - 2013
Chromosome microarray analysis (CMA) has proven to be a powerful tool in postnatal patients with intellectual disabilities, and it is increasingly used in prenatal diagnosis. However, its diagnostic capabilities in prenatal diagnosis vary, and clinical experiences have failed to establish a consensus regarding CMA indications, the design and resolution of ...
Panda Akhila Kumar AK Department of Neurology, Institute of Human Behaviour and Allied Science, Delhi, - - 2013
Angelman syndrome (AS) is a neurogenetic disorder that usually presents with delayed motor milestones, ataxic gait, mental retardation, language disorder, seizures, sleep disturbances, characteristic facial features, and happy demeanor. The genetic abnormality of AS has been located on chromosome 15q11-q13. The AS gene(s) is exclusively expressed from the maternal chromosome. ...
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