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https://www.readbyqxmd.com/read/29141250/a-small-supernumerary-marker-derived-from-the-pericentromeric-region-of-chromosome-5-case-report-and-delineation-of-partial-trisomy-5p-phenotype
#1
Letizia Camerota, Mariabernarda Pitzianti, Diana Postorivo, Anna M Nardone, Claudio Ligas, Costanzo Moretti, Augusto Pasini, Francesco Brancati
A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face; hypertelorism; deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism. Postnatal conventional cytogenetic analyses from peripheral blood revealed a mosaic small supernumerary marker chromosome (sSMC) with a mos 47,XX,+mar[7]/46,XX[43] karyotype. By cenM-FISH technique, the sSMC was identified as a ring derivative of chromosome 5...
November 16, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29130768/screening-of-six-polymorphisms-related-with-folate-metabolism-in-parents-of-individuals-with-down-syndrome
#2
Marly Balarin, Mariângela Cintra, Fernanda Cordeiro, Lucila Naves, Roseane Silva-Grecco
OBJECTIVE: The study aim to investigate MTHFR C677T, MTHFR A1298C, RFC1 A80G, MTR A2756G, CBS 844ins68, MTRR A66G polymorphisms in Down syndrome (DS) parents. METHODS: Polymorphisms were evaluated in 35 mothers and 24 fathers of individuals with free trisomy of chromosome 21 confirmed by karyotype. The control group included 26 mothers and 26 fathers who had no children with DS. The molecular analysis was performed by Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) (Reaction Chain Polymerase Restriction Fragment Length Polymorphism) or Polymerase Chain Reaction (PCR)...
November 12, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29130666/-application-of-chromosomal-microarray-analysis-for-chromosomal-abnormalities-of-spontaneously-aborted-fetuses
#3
Ting Hu, Hong-Mei Zhu, Zhu Zhang, Jia-Min Wang, Hai-Xia Zhang, Ze Du, Ling-Pingi Li, He Wang, Shan-Ling Liu
OBJECTIVE: To evaluate the clinical significance of chromosomal microarry analysis (CMA) for detection of chromosomal abnormalities in spontaneously aborted fetuses. METHODS: Chorionic villi samples from 431 spontaneously aborted fetuses were detected on the chromosomal abnormalities by CMA in our department form September 2014 to April 2016. RESULTS: The overall success rate of CMA was 100%,and 283 cases were detected with abnormalities (65...
September 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/29129824/impact-of-fish-aberrations-and-cllu1-expression-on-the-prognosis-of-chronic-lymphocytic-leukemia-presentation-of-156-patients-from-turkey
#4
Ümmet Abur, Gönül Oğur, Ömer Salih Akar, Engin Altundağ, Huri Sema Aymelek, Düzgün Özatlı, Mehmet Turgut
OBJECTIVE: This study evaluates the impact of the CLLU1 expression and FISH analysis of a group of Turkish CLL patients. MATERIALS AND METHODS: Totally, 156 CLL patients were analysed by FISH method;47 of them were also evaluated for CLLU1 expression. Results were correlated with clinical parameters. RESULTS: FISH aberrations were found in 62% of patients. These aberrations were del13q14 (67%), trisomy 12 (27%), del11q22 (19%), del17p (8%) and 14q32 rearrangements (20%)...
November 13, 2017: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/29128905/down-syndrome-ipsc-derived-astrocytes-impair-neuronal-synaptogenesis-and-the-mtor-pathway-in-vitro
#5
Bruno H S Araujo, Carolini Kaid, Janaina S De Souza, Sérgio Gomes da Silva, Ernesto Goulart, Luiz C J Caires, Camila M Musso, Laila B Torres, Adriano Ferrasa, Roberto Herai, Mayana Zatz, Oswaldo K Okamoto, Esper A Cavalheiro
Several methods have been used to study the neuropathogenesis of Down syndrome (DS), such as mouse aneuploidies, post mortem human brains, and in vitro cell culture of neural progenitor cells. More recently, induced pluripotent stem cell (iPSC) technology has offered new approaches in investigation, providing a valuable tool for studying specific cell types affected by DS, especially neurons and astrocytes. Here, we investigated the role of astrocytes in DS developmental disease and the impact of the astrocyte secretome in neuron mTOR signaling and synapse formation using iPSC derived from DS and wild-type (WT) subjects...
November 11, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/29125674/women-s-preference-for-non-invasive-prenatal-dna-testing-nipt-versus-chromosomal-microarray-after-screening-for-down-syndrome-a-prospective-study
#6
Yvonne Kwun Yue Cheng, Wing Cheong Leung, Tak Yeung Leung, Kwong Wai Choy, Rossa Wai Kwun Chiu, Tsz-Kin Lo, Ka Yin Kwok, Daljit Singh Sahota
OBJECTIVE: To examine preference for follow-up test in women screened high or intermediate risk in 1(st) or 2(nd) trimester Down syndrome screening. DESIGN: Prospective cohort study. SETTING: Three public hospitals in Hong Kong, China. SAMPLE: Women with term high risk ≥ 1:250 (HR) or intermediate risk 1:251-1:1200 (IR). METHODS: Women screened high risk were asked to decide among 1) an invasive test plus chromosomal microarray (CMA) to obtain more detailed fetal genetic information, 2) a non-invasive cell free prenatal DNA screening (NIPT) to detect trisomies 13, 18 and 21 to avoid procedure related miscarriage, and 3) decline further testing...
November 10, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29125628/genomics-based-non-invasive-prenatal-testing-for-detection-of-fetal-chromosomal-aneuploidy-in-pregnant-women
#7
REVIEW
Mylène Badeau, Carmen Lindsay, Jonatan Blais, Leon Nshimyumukiza, Yemisi Takwoingi, Sylvie Langlois, France Légaré, Yves Giguère, Alexis F Turgeon, William Witteman, François Rousseau
BACKGROUND: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method...
November 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29125001/hypoxia-due-to-positive-pressure-ventilation-in-edwards-syndrome-a-case-report
#8
Sun Kyung Hoon, Seung-Woo Kang, Sang-Hyun Kwak, Joungmin Kim
Edwards' syndrome also known as trisomy 18 is a congenital disorder associated with cardiovascular issues including ventricular septal defect (VSD), atrial septal defect (ASD) and patent duct arteriosus (PDA). An emergency colostomy was performed on a neonate born with an imperforate anus. Pre-operative transthoracic echocardiography showed presence of VSD, a patent foramen ovale (PFO) or ASD. Even though the baby had a good general condition and optimal peripheral oxygen saturation (SpO2), during positive pressure ventilation, she suffered severe hypoxia (50% SpO2)...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/29121006/origin-and-clinical-relevance-of-chromosomal-aberrations-other-than-the-common-trisomies-detected-by-genome-wide-nips-results-of-the-trident-study
#9
Diane Van Opstal, Merel C van Maarle, Klaske Lichtenbelt, Marjan M Weiss, Heleen Schuring-Blom, Shama L Bhola, Mariette J V Hoffer, Karin Huijsdens-van Amsterdam, Merryn V Macville, Angelique J A Kooper, Brigitte H W Faas, Lutgarde Govaerts, Gita M Tan-Sindhunata, Nicolette den Hollander, Ilse Feenstra, Robert-Jan H Galjaard, Dick Oepkes, Stijn Ghesquiere, Rutger W W Brouwer, Lean Beulen, Sander Bollen, Martin G Elferink, Roy Straver, Lidewij Henneman, Godelieve C Page-Christiaens, Erik A Sistermans
PurposeNoninvasive prenatal screening (NIPS) using cell-free DNA in maternal blood is highly sensitive for detecting fetal trisomies 21, 18, and 13. Using a genome-wide approach, other chromosome anomalies can also be detected. We report on the origin, frequency, and clinical significance of these other chromosome aberrations found in pregnancies at risk for trisomy 21, 18, or 13.MethodsWhole-genome shallow massively parallel sequencing was used and all autosomes were analyzed.ResultsIn 78 of 2,527 cases (3...
October 2, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29120460/prenatal-reflex-dna-screening-for-trisomies-21-18-and-13
#10
Nicholas J Wald, Wayne J Huttly, Jonathan P Bestwick, Robert Old, Joan K Morris, Ray Cheng, Joe Aquilina, Elisabeth Peregrine, Devender Roberts, Zarko Alfirevic
PurposeThe purpose of the study was to determine the screening performance of prenatal reflex DNA screening for trisomies 21 (T21), 18 (T18), and 13 (T13) as part of a routine service at five hospitals.MethodsWomen who accepted screening had a first-trimester combined test (pregnancy-associated plasma protein A, free β-human chorionic gonadotropin, nuchal translucency interpreted with maternal age). Those with a risk of having an affected pregnancy ≥1 in 800 were reflexed to a DNA sequencing test using stored plasma from the original blood sample, thereby avoiding the need to recall them...
November 9, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29120459/informative-priors-on-fetal-fraction-increase-power-of-the-noninvasive-prenatal-screen
#11
Hanli Xu, Shaowei Wang, Lin-Lin Ma, Shuai Huang, Lin Liang, Qian Liu, Yang-Yang Liu, Ke-Di Liu, Ze-Min Tan, Hao Ban, Yongtao Guan, Zuhong Lu
PurposeNoninvasive prenatal screening (NIPS) sequences a mixture of the maternal and fetal cell-free DNA. Fetal trisomy can be detected by examining chromosomal dosages estimated from sequencing reads. The traditional method uses the Z-test, which compares a subject against a set of euploid controls, where the information of fetal fraction is not fully utilized. Here we present a Bayesian method that leverages informative priors on the fetal fraction.MethodOur Bayesian method combines the Z-test likelihood and informative priors of the fetal fraction, which are learned from the sex chromosomes, to compute Bayes factors...
November 9, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29118296/mismatch-between-fetal-sexing-and-birth-phenotype-a%C3%A2-case-of-complete-androgen-insensitivity-syndrome
#12
Keisuke Yoshii, Yasuhiro Naiki, Yumiko Terada, Maki Fukami, Reiko Horikawa
With advancing maternal age, the number of prenatal genetic tests is increasing in many countries. Prenatal genetic tests, such as amniocentesis, chorionic villus sampling and non-invasive prenatal testing, can disclose fetal chromosomal sex, although these tests were originally designed to prenatally diagnose chromosomal aneuploidies, such as trisomy 21, 18 and 13. Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder caused by an androgen receptor dysfunction leading to hormone resistance...
November 9, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/29117655/genetic-etiology-of-primary-premature-ovarian-insufficiency
#13
Maja Franić-Ivanišević, Damir Franić, Miomira Ivović, Milina Tančić-Gajić, Ljiljana Marina, Marija Barac, Svetlana Vujović
Primary premature ovarian insufficiency (PPOI) is characterized by hypergonadotropic amenorrhea and hypoestrogenism in women under 40 years of age. PPOI incidence is 1:10,000 in women aged 18-25, 1:1000 in women aged 25-30 and 1:100 in women aged 35-40. In 10%-28% of cases, PPOI causes primary and in 4%-18% secondary amenorrhea. The process is a consequence of accelerated oocyte atresia, diminished number of germinated cells, and central nervous system aging. Specific genes are responsible for the control of oocyte number undergoing the ovulation process and the time to cessation of the reproductive function...
December 2016: Acta Clinica Croatica
https://www.readbyqxmd.com/read/29112995/prenatal-and-postnatal-follow-up-in-trisomies-13-and-18-a-20-year-experience-in-a-tertiary-center
#14
Özlem Akgün Doğan, Gizem Ürel Demir, Umut Arslan, Pelin Özlem Şimşek-Kiper, Gülen Eda Utine, Mehmet Alikaşifoğlu, Koray Boduroğlu
No abstract text is available yet for this article.
November 7, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/29108162/fetal-therapy-for-down-syndrome-report-of-three-cases-and-a-review-of-the-literature
#15
Patrick James Baggot, Rocel Medina Baggot
BACKGROUND: Down syndrome (trisomy 21) is a well-known cause of mental retardation. It can be diagnosed in early pregnancy. Scientists have made great strides in outlining the pathophysiologic mechanisms of mental retardation in Down syndrome. Much less has been published on human therapy. To our knowledge, these are the first published cases of fetal therapy for Down syndrome. METHODOLOGY: Reports of three cases. In all cases, treatment was both biochemical (e...
2017: Issues in Law & Medicine
https://www.readbyqxmd.com/read/29107097/case-report-low-grade-astrocytoma-within-a-mature-cystic-teratoma-in-an-adolescent-patient
#16
Nicole Yoder, Asher Marks, Pei Hui, Babak Litkouhi, Julia Cron
BACKGROUND: Mature cystic teratomas are the most common ovarian neoplasm in adolescents. They are typically benign, however malignant transformation rarely occurs. We report a low-grade astrocytoma arising from a mature cystic teratoma in an adolescent patient. CASE: The patient was a 12-year-old female with an asymptomatic ovarian cyst and subsequent cystectomy. Final pathology identified a solid tumor with glial tissue within the cyst, reported as low-grade astrocytoma arising in a mature cystic teratoma...
October 26, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/29104112/unclassified-hemangioma-like-renal-cell-carcinoma-a-potential-diagnostic-pitfall
#17
Kanika Taneja, Sohrab Arora, Craig G Rogers, Nilesh S Gupta, Liang Cheng, Sean R Williamson
Recently, rare renal cell carcinomas (RCC) have been reported to closely mimic hemangioma; however, these have been largely recognizable as clear cell RCC. Conversely, true hemangiomas of the kidney are also increasingly recognized. We report a 62-year-old woman who underwent partial nephrectomy for a hemangioma-like RCC without appreciable clear cell morphology. Immunohistochemistry revealed luminal structures that stained positively for cytokeratin (CK), CK7, carbonic anhydrase IX, PAX8, and high molecular weight keratin (HMWK), admixed with a CD34, CD31, and ERG-positive complex network of vessels...
November 2, 2017: Human Pathology
https://www.readbyqxmd.com/read/29093756/a-case-of-placental-trisomy-18-mosaicism-causing-a-false-negative-nipt-result
#18
Jiexia Yang, Yiming Qi, Fangfang Guo, Yaping Hou, Haishan Peng, Dongmei Wang, Haoxin Oy, Aihua Yin
Background: The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolutionizing prenatal screening as a result of its increased sensitivity and specificity. However, false positive and false negative results still exist. Case presentation: We presented a case in which the non-invasive prenatal testing results were normal at 15 gestational age (GA), but an ultrasound examination at 30GA showed that the fetus had heart abnormalities, and the third trimester ultrasound at 33GA noted multiple anomalies including a 3...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29093484/trisomy-21-causes-changes-in-the-circulating-proteome-indicative-of-chronic-autoinflammation
#19
Kelly D Sullivan, Donald Evans, Ahwan Pandey, Thomas H Hraha, Keith P Smith, Neil Markham, Angela L Rachubinski, Kristine Wolter-Warmerdam, Francis Hickey, Joaquin M Espinosa, Thomas Blumenthal
Trisomy 21 (T21) causes Down syndrome (DS), but the mechanisms by which T21 produces the different disease spectrum observed in people with DS are unknown. We recently identified an activated interferon response associated with T21 in human cells of different origins, consistent with overexpression of the four interferon receptors encoded on chromosome 21, and proposed that DS could be understood partially as an interferonopathy. However, the impact of T21 on systemic signaling cascades in living individuals with DS is undefined...
November 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29089484/systematic-proteome-and-proteostasis-profiling-in-human-trisomy-21-fibroblast-cells
#20
Yansheng Liu, Christelle Borel, Li Li, Torsten Müller, Evan G Williams, Pierre-Luc Germain, Marija Buljan, Tatjana Sajic, Paul J Boersema, Wenguang Shao, Marco Faini, Giuseppe Testa, Andreas Beyer, Stylianos E Antonarakis, Ruedi Aebersold
Down syndrome (DS) is mostly caused by a trisomy of the entire Chromosome 21 (Trisomy 21, T21). Here, we use SWATH mass spectrometry to quantify protein abundance and protein turnover in fibroblasts from a monozygotic twin pair discordant for T21, and to profile protein expression in 11 unrelated DS individuals and matched controls. The integration of the steady-state and turnover proteomic data indicates that protein-specific degradation of members of stoichiometric complexes is a major determinant of T21 gene dosage outcome, both within and between individuals...
October 31, 2017: Nature Communications
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