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Abdelhedi Fatma F From the Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France; - - 2014
We report here the unusual association of Silver-Russell syndrome (SRS) and cerebellar dysplasia with trisomy 7 mosaicism and maternal uniparental disomy of chromosome 7 [UPD(7)m]. Low-level trisomy 7 mosaicism was diagnosed prenatally on amniocytes, and UPD(7)m was confirmed after birth. Medical examination at birth showed dysmorphic facial features of SRS. ...
Levy Brynn B Department of Pathology and Cell Biology, Columbia University, New York, New York; the Departments of Statistics, Genetic Counseling, Research and Development, and Operations, Natera Inc., San Carlos, and the Reproductive Endocrinology and Infertility Division, Stanford University, Palo Alto, - - 2014
To report the full cohort of identifiable anomalies, regardless of known clinical significance, in a large-scale cohort of postmiscarriage products-of-conception samples analyzed using a high-resolution single-nucleotide polymorphism (SNP)-based microarray platform. High-resolution chromosomal microarray analysis allows for the identification of visible and submicroscopic cytogenomic imbalances; the specific use of SNPs permits ...
Aypar Umut U Cytogenetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, - - 2014
Deletion of 15q11.2-q13 results in either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) depending on the parent of origin. Duplication of the PWS/AS critical region (PWASCR) has also been reported in association with developmental delay and autism, and it has been shown that they also show a parent-of-origin effect. It ...
Hillman Sarah C SC School of Clinical and Experimental Medicine, College of Medicine and Dentistry, University of Birmingham, Birmingham, - - 2014
Introduction: To determine the cost-effectiveness of prenatal chromosomal microarray (CMA) when performed for structural anomalies on fetal ultrasound scan over conventional techniques. Method: A decision tree was populated using data from a prospective cohort of women undergoing testing when a fetal ultrasound scan showed a structural abnormality. Nine strategies of ...
Han J J Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University , Guangzhou, Guangdong , - - 2014
The aim of this study is to describe the experience of transabdominal chorionic villus sampling (CVS) at a mainland Chinese hospital. During a 7-year period, 1,172 pregnant women chose to have CVS for prenatal diagnosis. Details and outcome of all of these cases were reviewed. The median maternal age was ...
Meloni Vera Ayres VA Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, - - 2014
The chromosomal segment 6q24-q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial phenotype. We describe here a 10-year follow-up with detailed clinical, neuropsychological, and cytomolecular data of two siblings, male and female, who presented with developmental delay, ...
Donnelly Jennifer C JC Department of Obstetrics and Gynecology, Columbia University Medical Center, and Maternal Fetal Medicine Associates PLLC and the Department of Obstetrics, Gynecology, and Reproductive Science, Icahn School of Medicine, Mount Sinai School, New York, New York; the Center for Fetal Medicine and Women's Ultrasound and the Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California; the George Washington University Biostatistics Center, Rockville, Maryland; and the Feinberg School of Medicine, Northwestern University, Chicago, - - 2014
To evaluate the association of other-than-common benign copy number variants with specific fetal abnormalities detected by ultrasonogram. Fetuses with structural anomalies were compared with fetuses without detected abnormalities for the frequency of other-than-common benign copy number variants. This is a secondary analysis from the previously published National Institute of Child ...
Wapner Ronald J RJ Department of Obstetrics and Gynecology, Columbia University Medical Center, 622 West 168 St., New York, NY 10032, - - 2014
Recent advances in the clinical application of genomic technologies have significantly impacted the field of prenatal diagnosis. Central to these advances has been the implementation of chromosomal microarray analysis (CMA). Microdeletions and microduplications, undetectable by traditional karyotyping, have recently been confirmed to play a role in altered neurocognitive development. CMA ...
Kuo Yu-Ling YL Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, - - 2014
To report prenatal diagnosis of 22q11.2 deletion syndrome in a pregnancy with congenital heart defects in the fetus. A 26-year-old, primigravid woman was referred for counseling at 24 weeks of gestation because of abnormal ultrasound findings of fetal congenital heart defects. The Level II ultrasound revealed a singleton fetus with ...
Berry LE L University of Leicester, Leicester, - - 2014
Cystic hygroma (CH), is a congenital lymphatic malformation frequently detected in antenatal ultrasound scanning commonly associated with chromosomal defects. It also occurs as an isolated finding or in conjunction with other congenital anomalies. It is not understood whether CH is more common in foetuses affected by another (otherwise isolated) congenital ...
Straver Roy R Delft Bioinformatics Lab, Delft University of Technology, Mekelweg 4, 2628 CD Delft, The - - 2014
Noninvasive prenatal testing is a relatively new screening method for the detection of fetal chromosome abnormalities using next-generation sequencing (NGS) of fetal DNA in maternal blood. Recently, the introduction of a new tool called WIthin SamplE COpy Number aberration DetectOR (WISECONDOR) marked a new era in prenatal screening. WISECONDOR detects ...
Pavone Piero P Unit of Pediatrics and Pediatric Emergency, University Hospital "Policlinico-Vittorio Emanuele", Catania, - - 2014
A 2 ½-year-old girl with multiple congenital anomalies and a de novo 5.6-Mb deletion on chromosome 13q12.11-13q12.13 is reported. She showed choanal atresia, scalp aplasia cutis, mild dysmorphic features, severe malformation of the hands and feet, Sylvian aqueductal stenosis, hydrocephalus, small cerebellum with pointed cerebellar tonsils, cervical, lumbar and sacral ...
Liao Can C Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, - - 2014
Massively parallel sequencing (MPS) of cell-free fetal DNA from maternal plasma has revolutionized our ability to perform noninvasive prenatal diagnosis. This approach avoids the risk of fetal loss associated with more invasive diagnostic procedures. The present study developed an effective method for noninvasive prenatal diagnosis of common chromosomal aneuploidies using ...
McNamara Christopher J CJ Saint Barnabas Medical Center, Livingston, - - 2014
The intent of noninvasive prenatal testing is to detect fetal aneuploidies. The assumption is that over- and underrepresented chromosomes are of fetal origin. However, this is not always the case. We report three cases in which maternal sex chromosome aneuploidy resulted in false-positive noninvasive prenatal testing. Three patients were ascertained ...
Wu Dan D Department of Medical Genetics, Peking University Health Science Center, Beijing 100191, - - 2014
Amniotic fluid (AF) supernatant contains cell-free fetal DNA (cffDNA) fragments. This study attempted to take advantage of cffDNA as a new material for prenatal diagnosis, which could be combined with simple quantitative fluorescent polymerase chain reaction (QF-PCR) to provide an ancillary method for the prenatal diagnosis of trisomy 21 syndrome. ...
Zhou Shujun S College of Landscape and Art, Jiangxi Agricultural University , 1101 of Zhimindayao, Nanchang 330045, Jiangxi Province , China ; Department of Horticulture, College of Agriculture and Biotechnology, Zhejiang University , 866 Yuhangtang Road, Hangzhou, Zhejiang Province 310058 , - - 2014
Based on a recent hypothesis, "Five same genomes of endosperm are essential for its development in Lilium", it is expected that allotriploid lily (OTO) can be hybridized with diploid Oriental lily (OO) for introgression breeding in Lilium L.. To test the hypothesis, OTO lilies, 'Belladonna', 'Candy Club' and 'Travatore', were ...
Puvabanditsin Surasak S 1Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, - - 2014
A preterm neonate presenting with respiratory distress after birth was found to have a clival encephalocele, which is a variant of a basal encephalocele, and hypoplasia of the cerebellum. Genetic studies revealed a small deletion of the long arm of chromosome 5: 5q15 deletion. We report a rare variant of ...
Yun Yan Y School of Biomedical Sciences & Pharmacy; University of Newcastle; Callaghan, NSW, - - 2014
Currently, maternal aging in women, based on mouse models, is thought to raise oocyte aneuploidy rates, because chromosome cohesion deteriorates during prophase arrest, and Sgo2, a protector of centromeric cohesion, is lost. Here we show that the most common mouse strain, C57Bl6/J, is resistant to maternal aging, showing little increase ...
Goumy Carole C Cytogénétique Médicale, Université Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, - - 2014
Interstitial 2q36 deletion is a rare event. Only two previously published cases of 2q36 deletions were characterized using array-CGH. This is the first case diagnosed prenatally. We report on the prenatal diagnosis of a 2q36.1q36.3 interstitial deletion in a fetus with facial dysmorphism, spina bifida, and cleft palate. Array-CGH analysis ...
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 ...
Chen Chong C Department of Genetics of Dingli Clinical Medical School of Wenzhou Medical College, Zhejiang, - - 2014
This study investigated a pregnancy where the fetus was diagnosed with monosomy 18p by invasive amniocentesis and karyotyping. Additional noninvasive prenatal diagnosis, which detects fetal chromosome abnormalities in the circulating cell-free plasma DNA originating from the placenta revealed a related 18p monosomy/18q trisomy, suggesting confined placental mosaicism. Based on recent ...
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 ...
Akhter N N Dr Nasima Akhter, PMO & Associate Professor, Institute of Nuclear Medicine and Allied Sciences, Dhaka, Bangladesh; E-mail: - - 2014
Advances in ultrasound technology have dramatically improved the detection of fetal chromosomal defects. Each chromosomal defect has its own syndromal pattern of detectable abnormalities prenataly. Most commonly detectable defects are Trisomies & Triploidies. Although only an invasive test can provide a definitive diagnosis, fetuses with major chromosomal abnormalities have either ...
Gezer C C Department of Perinatology, Izmir Tepecik Training and Research Hospital , İzmir , - - 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 ...
Kosi-Santić Kornelija - - 2014
Asymmetric neonatal crying is a rare minor congenital abnormality caused by unilateral agenesis or hypoplasia of depressor anguli oris muscle and depressor labii inferioris muscle. It is either an isolated clinical finding or one of the clinical findings included in several malformation syndromes linked to a microdeletion within a chromosomal ...
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 ...
Younkin Samuel G SG Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore MD, USA. - - 2014
Copy number variants (CNVs) may play an important part in the development of common birth defects such as oral clefts, and individual patients with multiple birth defects (including clefts) have been shown to carry small and large chromosomal deletions. In this paper we investigate de novo deletions defined as DNA ...
Zamurović M - - 2014
Agenesis of the corpus callosum is an uncommon cerebral malformation usually of unknown etiology. It can be associated with other brain abnormalities, such as ventriculomegaly, or in combination with problems with other organs, such as congenital heart defect, as well as with chromosome anomalies. Diagnosis of this rare anomaly is ...
Tos T - - 2014
Partial trisomy 9q34-qter and partial monosomy 8q24.3-qter are very rare chromosomal abnormalities. Characteristic features of partial trisomy 9q34-qter are hypotonia, developmental delay, mild intellectual disability, dolichocephaly, distinct facial phenotype, long and thin fingers, and cardiac anomalies. Unlike the partial trisomy 9q34-qter, partial monosomy 8q24.3-qter has no distinct phenotype. Here we ...
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