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Trisomie

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https://www.readbyqxmd.com/read/28805623/prenatal-diagnosis-of-mosaicism-for-trisomy-2-in-a-single-colony-at-amniocentesis-in-a-pregnancy-with-a-favorable-outcome
#1
Chih-Ping Chen, Jian-Pei Huang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Chen-Chi Lee, Chien-Wen Yang, Wayseen Wang
No abstract text is available yet for this article.
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805616/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-16
#2
Chih-Ping Chen, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 16. CASE REPORT: A 28-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening for Down syndrome. Amniocentesis revealed a karyotype of 47,XY,+mar[5]/46,XY[9]. Parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) analysis of cultured amniocytes revealed a de novo 16% gene dosage increase of 16q11...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28804563/count-based-size-correction-analysis-of-maternal-plasma-dna-for-improved-noninvasive-prenatal-detection-of-fetal-trisomies-13-18-and-21
#3
Li Zhang, Qian Zhu, He Wang, Shanling Liu
PURPOSE: Our goal was to derive more sensitive and accurate Z-scores based on combined DNA count- and size-based algorithms to advance molecular diagnostics for noninvasive prenatal testing of fetal trisomies. METHODS: We included 180 cases at high risk for fetal aneuploidy who underwent amniotic fluid cytogenetic analysis. We calculated their traditional count-based Z-scores, as well as their 100-, 130- and 150-, and 166-bp size-corrected Z-scores, and determined each Z-score's reliability based on its comparison to the cases' cytogenetic results...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28797153/-chorionic-villus-cell-culture-and-karyotype-analysis-in-1-983-cases-of-spontaneous-miscarriage
#4
S M Yuan, C Liao, D Z Li, J Z Huang, S Y Hu, M Ke, H Z Zhong, C X Yi
Objective: To investigate the relationship between spontaneous miscarriage and embryonic chromosome abnormalities, and to evaluate the clinical application of karyotype analysis by chorionic villus cell culture. Methods: The chorionic villus karyotype of 1 983 cases of miscarriage from January 2010 to July 2016 in Guangzhou Women and Children's Mecical Center were analyzed retrospectively. The miscarried chorionic villi were obtained by curettage under sterilized condition. The chromosome specimens were prepared after chorionic villus cell culture...
July 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28794908/unusual-de-novo-partial-trisomy-17p12p11-2-due-to-unbalanced-insertion-into-5p13-1-in-a-severely-affected-boy
#5
Luis Alberto Mendez-Rosado, Araceli Lantigua, Juan Galarza, Ahmed B Hamid Al-Rikabi, Monika Ziegler, Thomas Liehr
Gain of copy numbers can be due to different chromosomal rearrangements such as direct or indirect duplications, translocations, small supernumerary marker chromosomes, or insertions. In a 3-year-old boy with dysmorphic features and developmental delay, chromosome analyses revealed a derivative chromosome 5. Microdissection and reverse fluorescence in situ hybridization identified the in 5p13.1 inserted part as 17p12-p11.2 material. Thus the patient suffered from a rare combination of genomic disorder, that is, Charcot-Marie-Tooth disease type 1A and Potocki-Lupski syndrome...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28781828/why-could-a-woman-have-three-trisomy-21-pregnancies-a-case-report
#6
Magda Magalhães, Cecília Marques, Fabiana Ramos, Ana Jardim, Sofia Franco, Filomena Coelho, Isabel Carreira, Paulo Moura
Mosaicism, an important cause for recurrent T21, should be suspected in families with more than one affected child wishing to receive prenatal counseling. Fluorescence in-situ hybridization analysis in a large number of cells and in different tissue samples is critical for detecting low-level mosaicism and is a key prognostic factor.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28777858/-clinical-features-and-prognosis-of-acute-myeloid-leukemia-with-acquired-trisomy-21
#7
Ying Lu, Jiaojiao Yuan, Huafeng Wang, Renzhi Pei, Zhimei Chen, Jie Jin
OBJECTIVE: To delineate the clinical features and prognostic significance of acquired trisomy 21 (+21) in 31 patients with acute myeloid leukemia (AML). METHODS: Chromosome specimen was prepared from bone marrow samples using a direct method and (or) cultivation, and their karyotypes were analyzed with R banding. The clinical features, chemotherapeutic effect and survival status of patients with acquired +21 were evaluated. RESULTS: Cytogenetic studies were successfully performed on 3 329 patients with newly diagnosed AML, among which 31 (0...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28777856/-clinical-and-laboratory-features-of-13-cases-of-myeloid-neoplasms-with-double-del-20q
#8
Shuxiao Bai, Chunxiao Wu, Jun Zhang, Suning Chen, Jinlan Pan
OBJECTIVE: To report on clinical and laboratory features of myeloid neoplasms with double del(20q). METHODS: Cytogenetic examination of bone marrow was performed on 13 cases of myeloid neophasms with double del(20q) after 24 hours of cell culture. R-banding was used to analyze the karyotypes. Interphase fluorescence in situ hybridization (FISH) was performed using dual-color probes for 20q11/20q12. RESULTS: Double del(20q) was found to be the sole abnormality in 9 cases, double del(20q) and trisomy 9 was found in 1 case, trisomy del(20q) was found in 1 case, and sole del(20q) clone and double del(20q) clone were found to coexist in 2 cases...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28777855/-application-of-bacs-on-beads-and-karyotyping-for-the-prenatal-diagnosis-of-1371-pregnant-women-with-a-high-risk
#9
Penglong Chen, Chunlei Jin, Qunda Shan, Bixia Qian, Xiaohong Zheng, Xiaohong Wang, Yi Wang
OBJECTIVE: To assess the value of combined BACs-on-Beads(TM) (BoBs) and chromosomal karyotyping for the diagnosis of women with high-risk pregnancy. METHODS: For 1371 women with singleton pregnancy and various indications for prenatal diagnosis, karyotyping and BoBs were simultaneously applied on their amnionic fluid samples. RESULTS: In total 23 cases of trisomy 21, 11 cases of trisomy 18, 5 cases of sex chromosome aneuploidies, 6 cases of microdeletions/microduplications, 2 cases of chimeric chromosomes and 1 case of structural chromosomal abnormality were detected by the BoBs assay, among which the 6 microdeletions/microduplications were not detected by karyotyping...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28771606/normative-weight-adjusted-models-for-the-median-levels-of-first-trimester-serum-biomarkers-for-trisomy-21-screening-in-a-specific-ethnicity
#10
Ounjai Kor-Anantakul, Thitima Suntharasaj, Chitkasaem Suwanrath, Tharangrut Hanprasertpong, Savitree Pranpanus, Ninlapa Pruksanusak, Suthiraporn Janwadee, Alan Geater
OBJECTIVE: To establish normative weight-adjusted models for the median levels of first trimester serum biomarkers for trisomy 21 screening in southern Thai women, and to compare these reference levels with Caucasian-specific and northern Thai models. METHODS: A cross-sectional study was conducted in 1,150 normal singleton pregnancy women to determine serum pregnancy-associated plasma protein-A (PAPP-A) and free β-human chorionic gonadotropin (β-hCG) concentrations in women from southern Thailand...
2017: PloS One
https://www.readbyqxmd.com/read/28770124/omphalocele-and-gastroschisis-in-newborns-over-16-years-of-experience-from-a-single-clinic
#11
Shunusuke Watanabe, Tatuya Suzuki, Fujio Hara, Toshihiro Yasui, Naoko Uga, Atuki Naoe
Infants born with potentially life-threatening conditions of omphalocele and gastroschisis may require long-term hospitalization. We aimed to compare the outcomes of these two conditions occurring over a 16-year period (2001-16). It is a retrospective study of 19 newborns undergoing surgery for these two abdominal wall defects (8 patients with omphalocele and 11 cases of gastroschisis). The average birth weights for the newborns with omphaloceles and gastroschisis were 2554.5 g and 2248.6 g respectively. Associated anomalies included trisomy 18, Beckwith-Wiedemann syndrome, congenital heart disease, Meckel's diverticulum, inguinal hernias, renal deformities, limb deformities, cryptorchidism, body stalk anomalies, and closed gastroschisis...
April 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28770003/formation-of-upd-7-mat-by-trisomic-rescue-snp-array-typing-provides-new-insights-in-chromosomal-nondisjunction
#12
Sandra Chantot-Bastaraud, Svea Stratmann, Frédéric Brioude, Matthias Begemann, Miriam Elbracht, Luitgard Graul-Neumann, Madeleine Harbison, Irène Netchine, Thomas Eggermann
BACKGROUND: Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and trisomy 7, a significant number of mechanisms have been proposed to explain the postzygotic formation of these chromosomal compositions, but all have been based on as small number of cases. To obtain the ratio of isodisomy and heterodisomy in UPDs (hUPD, iUPD) and to determine the underlying formation mechanisms, we analysed a large cohort of upd(7)mat patients (n = 73) by SNP array typing...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28766538/-prognostic-value-of-1q21-amplification-in-multiple-myeloma
#13
T V Abramova, T N Obukhova, L P Mendeleeva, O S Pokrovskaya, E O Gribanova, V V Ryzhko, L A Grebenyuk, M V Nareyko, M V Solovyev, O M Votyakova, S M Kulikov, M A Rusinov, V G Savchenko
AIM: To determine the prevalence of amp1q21 and its relationship to the clinical manifestations of multiple myeloma (MM). SUBJECTS AND METHODS: In December 2009 to March 2016, a total 134 patients aged 30 to 81 years (median 57 years) underwent a pretreatment FISH-study of bone marrow (BM) with centromeric and locus-specific DNA probes to identify amp1q21, t(11;14), t(4;14), t(14;16), t(14;20), t(6;14), trisomies of chromosomes 5, 9, 15, del13q14, del17p13/TP53, and t(8q24)/cMYC...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28764586/retrospective-analysis-of-4761-cases-who-underwent-amniocentesis-in-southeast-china
#14
Hehua Tao, Jianping Xiao, Canfeng Yang, Jun Wang, Ye Tang, Caiqin Guo, Junfeng Wang
The aim of this study was to examine the clinical and cytogenetic results of 4761 amniocentesis (AS) cases retrospectively in our clinic in southeast China. The prenatal diagnosis indications, detected chromosomal anomalies and the detection rate of chromosomal abnormalities were studied in 4761 patients who underwent AS between June 2014 and July 2016 retrospectively. Chromosomal abnormality was detected in 137 (2.88%) of the 4761 samples (89.1% numerical, 10.9% structural). The most frequent numerical chromosomal abnormality was trisomy 21 (59...
August 1, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28760128/analysis-of-musculoskeletal-dysmorphic-abnormalities-of-20-fetuses
#15
Mehmet Nuri Konya, Muhsin Elmas, Çiğdem Özdemir
OBJECTIVES: This study aims to report rates of skeletal abnormalities and their risk factors in light of information obtained in a fetal autopsy series. PATIENTS AND METHODS: The study included 20 fetuses (11 males, 8 females and 1 ambiguous genitalia; mean age 19.3±4.0 weeks; range 16 to 32 week) who underwent autopsy in our hospital between January 2013 and March 2015. Fetuses were systematically classified according to age, gender, family history, abortus week, abortus type, and extremity and organ abnormalities...
August 2017: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/28752840/genetic-evaluation-of-juvenile-xanthogranuloma-genomic-abnormalities-are-uncommon-in-solitary-lesions-advanced-cases-may-show-more-complexity
#16
Christian N Paxton, Dennis P O'Malley, Andrew M Bellizzi, Deema Alkapalan, Yuri Fedoriw, Jason L Hornick, Sherrie L Perkins, Sarah T South, Erica F Andersen
Juvenile xanthogranuloma is a rare histiocytic proliferation primarily affecting infants and young children, characterized by aberrant infiltration of histiocyte-derived cells in the skin, soft tissues and more rarely, visceral organs. Juvenile xanthogranuloma is generally considered to be a benign disorder; most lesions are solitary cutaneous nodules that resolve spontaneously without treatment. However, cases with extracutaneous involvement, multiple lesions, and/or systemic disease often require aggressive therapy...
July 28, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28751771/number-of-runx1-mutations-wild-type-allele-loss-and-additional-mutations-impact-on-prognosis-in-adult-runx1-mutated-aml
#17
A Stengel, W Kern, M Meggendorfer, N Nadarajah, K Perglerovà, T Haferlach, C Haferlach
RUNX1 mutated AML show a distinct pattern of genetic abnormalities and an adverse prognosis. We analyzed the impact of multiple RUNX1 mutations and RUNX1 wild-type (WT) loss in 467 AML with RUNX1 mutations (mut): (1) RUNX1 WT loss (n=53), (2) >1 RUNX1mut (n=94) and (3) 1 RUNX1mut (n=323). In 1 RUNX1mut, +8 was most frequent, whereas in WT loss +13 was the most abundant trisomy (+8: 66% vs. 31%, P=0.022; +13: 15% vs 62%, P<0.001). Analyses of 28 genes in 163 selected cases revealed SRSF2 (39%), ASXL1 (36%), DNMT3A (19%), IDH2 (17%) and SF3B1 (17%) as most frequently mutated genes...
July 28, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28751560/mutational-status-of-ighv-is-the-most-reliable-prognostic-marker-in-trisomy-12-chronic-lymphocytic-leukemia
#18
Pietro Bulian, Riccardo Bomben, Michele Dal Bo, Antonella Zucchetto, Francesca Maria Rossi, Massimo Degan, Federico Pozzo, Tamara Bittolo, Vanessa Bravin, Tiziana D'Agaro, Michaela Cerri, Annalisa Chiarenza, Kari G Chaffee, Adalgisa Condoluci, Giovanni D'Arena, Michele Spina, Francesco Zaja, Gabriele Pozzato, Francesco Di Raimondo, Davide Rossi, Giovanni Del Poeta, Gianluca Gaidano, Tait D Shanafelt, Valter Gattei
No abstract text is available yet for this article.
July 27, 2017: Haematologica
https://www.readbyqxmd.com/read/28749784/concentrations-of-leptin-adiponectin-and-other-metabolic-parameters-in-non-obese-children-with-down-syndrome
#19
Nikhil Tenneti, Devi Dayal, Sheetal Sharda, Inusha Panigrahi, Mohammed Didi, Savita Verma Attri, Naresh Sachdeva, Anil Kumar Bhalla
BACKGROUND: Recent data indicates that adults with Down syndrome (DS) are at increased risk for cardiovascular disease (CVD) that significantly contributes to their morbidity and mortality. Although identification of cardiometabolic risk factors during childhood is desirable to design preventive interventions, the data on such risk factors in children with DS is scarce. The aim of this study was to study the cardiometabolic risk factors such as insulin resistance (IR), leptin and adiponectin concentrations, lipid abnormalities and leptin resistance in non-obese children with DS...
August 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28749033/co-occurring-down-syndrome-and-sucla2-related-mitochondrial-depletion-syndrome
#20
Natario L Couser, Daniel S Marchuk, Laurie D Smith, Alexandra Arreola, Kathleen A Kaiser-Rogers, Joseph Muenzer, Arti Pandya, Muge Gucsavas-Calikoglu, Cynthia M Powell
Mitochondrial DNA depletion syndrome 5 (MIM 612073) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the beta subunit of the succinate-CoA ligase gene located within the 13q14 band. We describe two siblings of Hispanic descent with SUCLA2-related mitochondrial depletion syndrome (encephalomyopathic form with methylmalonic aciduria); the older sibling is additionally affected with trisomy 21. SUCLA2 sequencing identified homozygous p.Arg284Cys pathogenic variants in both patients...
July 27, 2017: American Journal of Medical Genetics. Part A
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