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  1 / 354 MEDLINE  
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PMID:28357876
Autor:Zhang B; Lu BY; Yu B; Zheng FX; Zhou Q; Chen YP; Zhang XQ
Dirección:Prenatal Diagnosis Laboratory, Changzhou Woman and Children Health Hospital affiliated with Nanjing Medical University, Changzhou City, Jiangsu Province, China.
Título:Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood.
Fuente:J Int Med Res; 45(2):621-630, 2017 Apr.
ISSN:1473-2300
País de publicación:England
Idioma:eng
Resumen:Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother's peripheral venous blood and a high-throughput sequencing procedure was undertaken. Patients identified as having pregnancies associated with SCAs were offered prenatal fetal chromosomal karyotyping. Results The study enrolled 10 275 pregnant women who were prepared to undergo NIPT. Of these, 57 pregnant women (0.55%) showed fetal SCA, including 27 with Turner syndrome (45,X), eight with Triple X syndrome (47,XXX), 12 with Klinefelter syndrome (47,XXY) and three with 47,XYY. Thirty-three pregnant women agreed to undergo fetal karyotyping and 18 had results consistent with NIPT, while 15 patients received a normal karyotype result. The overall positive predictive value of NIPT for detecting SCAs was 54.54% (18/33) and for detecting Turner syndrome (45,X) was 29.41% (5/17). Conclusion NIPT can be used to identify fetal SCAs by analysing cffDNA using massively parallel genomic sequencing, although the accuracy needs to be improved particularly for Turner syndrome (45,X).
Tipo de publicación:JOURNAL ARTICLE
Nombre de substancia:9007-49-2 (DNA)


  2 / 354 MEDLINE  
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PMID:27997249
Autor:Campos-Acevedo LD; Ibarra-Ramirez M; de Jesús Lugo-Trampe J; de Jesús Zamudio-Osuna M; Torres-Muñoz I; Del Roble Velasco-Campos M; Rojas-Patlan L; Rodríguez-Sánchez IP; Martínez-de-Villarreal LE
Dirección:Departamento de Genética, Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL) , Monterrey, México .
Título:Dosage of Sex Chromosomal Genes in Blood Deposited on Filter Paper for Neonatal Screening of Sex Chromosome Aneuploidy.
Fuente:Genet Test Mol Biomarkers; 20(12):786-790, 2016 Dec.
ISSN:1945-0257
País de publicación:United States
Idioma:eng
Resumen:AIMS: In this study, we examined the doses of the stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY genes to establish a protocol for using peripheral blood samples deposited on filter paper for the screening of sex chromosome aneuploidy in neonates. We also measured correlations with karyotypes to assess this method as a neonatal screening strategy. MATERIALS AND METHODS: This was an observational, descriptive, comparative blind study. Thirty-two healthy young adults (17 women, 15 men; age, ≥18 years), four patients with known sex chromosome aneuploidy (positive control group), and 1000 healthy newborns were included. Gene dosages were determined using quantitative real-time polymerase chain reaction (RT-PCR). Values with standard deviations (SDs) of three or more were considered abnormal. RESULTS: Men and women differed in the gene dosage of the SRY gene. Cases with Turner syndrome showed values below 3 SDs for SHOX and VAMP7 genes, and cases with Klinefelter syndrome showed values above 3 SDs for SHOX and VAMP7 genes. Two suspected cases of sex chromosome aneuploidy were diagnosed using our neonatal screening strategy; these cases were confirmed as Turner syndrome and 47,XYY syndrome by karyotyping. CONCLUSIONS: Our data establish a basis for the determination of chromosomal sex and neonatal screening of sex chromosome aneuploidy using RT-PCR.
Tipo de publicación:JOURNAL ARTICLE
Nombre de substancia:0 (Homeodomain Proteins); 0 (R-SNARE Proteins); 0 (SHOX protein, human); 0 (SRY protein, human); 0 (Sex-Determining Region Y Protein); 0 (Short Stature Homeobox Protein); 0 (VAMP7 protein, human)


  3 / 354 MEDLINE  
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PMID:27577224
Autor:Liu Y; Dong R; Zhang K; Wang Y; Zhang H; Zhang Y; Zhao D; Gai Z
Dirección:Pediatric Research Institute, Institute of Pediatric Health Care, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Email: gaizhongtao@sina.com.
Título:[Genetic analysis of a child with XYY syndrome mainly featuring mental retardation].
Fuente:Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 33(5):686-9, 2016 Oct.
ISSN:1003-9406
País de publicación:China
Idioma:chi
Resumen:OBJECTIVE: To explore the genetic cause for a boy featuring mainly with mental retardation. METHODS: G-banding karyotyping and fluorescence in situ hybridization (FISH) were carried out for the child and his parents. The child was also analyzed with chromosome microarray (CMA). Suspected microdeletion was validated with quantitative PCR. RESULTS: The proband was found to have a 47,XYY karyotype by both chromosome and FISH analyses, while both of his parents had a normal karyotype. CMA suggested that the proband had one copy of X chromosome and two copies of Y chromosome. In addition, CMA has also detected deletion of the KYNU gene (mapped at 2q22.2), which could be pathogenic. The result was confirmed by qPCR. CONCLUSION: For its high resolution, CMA can be used to identify potential microdeletion/duplications among children with chromosome aneuploidy and unusual phenotypes.
Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE


  4 / 354 MEDLINE  
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PMID:27018091
Autor:Gruchy N; Blondeel E; Le Meur N; Joly-Hélas G; Chambon P; Till M; Herbaux M; Vigouroux-Castera A; Coussement A; Lespinasse J; Amblard F; Jimenez Pocquet M; Lebel-Roy C; Carré-Pigeon F; Flori E; Mugneret F; Jaillard S; Yardin C; Harbuz R; Collonge-Rame MA; Vago P; Valduga M; Leporrier N; Vialard F
Dirección:Service de Génétique, Laboratoire de cytogénétique prénatale, CHU Côte de Nacre, UFR de Médecine Caen, Caen, France.
Título:Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
Fuente:Prenat Diagn; 36(6):523-9, 2016 Jun.
ISSN:1097-0223
País de publicación:England
Idioma:eng
Resumen:OBJECTIVE: Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47, XXX and 47, XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of the present study was to characterize a French cohort of prenatally diagnosed cases of 47, XXX and 47, XYY and to evaluate the termination of pregnancy (TOP) rate before and after France's implementation of multidisciplinary centres for prenatal diagnosis in 1997. METHODS: This retrospective study identified respectively 291 and 175 cases of prenatally diagnosed 47, XXX and 47, XYY between 1976 and 2012. For each case, the indication, maternal age, karyotype and outcome were recorded. RESULTS: Most diagnoses of the two conditions were fortuitous. The occurrence of 47, XXX was associated with advanced maternal age. The overall TOP rate was higher for 47, XXX (22.9%) than for 47, XYY (14.6%), although this difference was not statistically significant. However, the TOP rates fell significantly after 1997 (from 41.1% to 11.8% for 47, XXX and from 25.8% to 6.7% for 47, XYY). CONCLUSION: The TOP rates after prenatal diagnoses of 47, XXX and 47, XYY fell significantly after 1997, following France's implementation of multidisciplinary centres for prenatal diagnosis. © 2016 John Wiley & Sons, Ltd.
Tipo de publicación:JOURNAL ARTICLE; MULTICENTER STUDY


  5 / 354 MEDLINE  
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PMID:26420477
Autor:Dutra RL; Piazzon FB; Zanardo ÉA; Costa TV; Montenegro MM; Novo-Filho GM; Dias AT; Nascimento AM; Kim CA; Kulikowski LD
Dirección:Genetics Unit, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.
Título:Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.
Fuente:Am J Med Genet A; 167A(12):3197-203, 2015 Dec.
ISSN:1552-4833
País de publicación:United States
Idioma:eng
Resumen:Williams-Beuren syndrome (WBS) is caused by a hemizygous contiguous gene microdeletion of 1.55-1.84 Mb at 7q11.23 region. Approximately, 28 genes have been shown to contribute to classical phenotype of SWB with presence of dysmorphic facial features, supravalvular aortic stenosis (SVAS), intellectual disability, and overfriendliness. With the use of Microarray-based comparative genomic hybridization and other molecular cytogenetic techniques, is possible define with more accuracy partial or atypical deletion and refine the genotype-phenotype correlation. Here, we report on a rare genomic structural rearrangement in a boy with atypical deletion in 7q11.23 and XYY syndrome with characteristic clinical signs, but not sufficient for the diagnosis of WBS. Cytogenetic analysis of G-banding showed a karyotype 47,XYY. Analysis of DNA with the technique of MLPA (Multiplex Ligation-dependent Probe Amplification) using kits a combination of kits (P064, P036, P070, and P029) identified an atypical deletion on 7q11.23. In addition, high resolution SNP Oligonucleotide Microarray Analysis (SNP-array) confirmed the alterations found by MLPA and revealed others pathogenic CNVs, in the chromosomes 7 and X. The present report demonstrates an association not yet described in literature, between Williams-Beuren syndrome and 47,XYY. The identification of atypical deletion in 7q11.23 concomitant to additional pathogenic CNVs in others genomic regions allows a better comprehension of clinical consequences of atypical genomic rearrangements.
Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T


  6 / 354 MEDLINE  
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PMID:26381641
Autor:Scheidt L; Sanabe ME; Diniz MB
Título:Oral, physical, and behavioral aspects of patient with chromosome 47, XYY syndrome.
Fuente:J Indian Soc Pedod Prev Dent; 33(4):347-50, 2015 Oct-Dec.
ISSN:1998-3905
País de publicación:India
Idioma:eng
Resumen:Chromosome 47, XYY syndrome is usually diagnosed late. Some of the clinical characteristics of XYY syndrome may be perceptible in dental care. The slow development of cognitive and motor activities and tall stature is common in XYY patients. The aim of this article was to relate the oral, physical, and behavioral aspects of a 6-year-old patient with the chromosome 47, XYY syndrome, diagnosed by means of karyotyping. The patient presented motor difficulty, which led to a fall and traumatism in the anterior region. In the radiography, agenesia of the permanent maxillary lateral incisors, presence of taurodontism in the primary molars, and macrodontia of the maxillary central incisors and permanent molars could be observed. Once the diagnosis was made, it was possible to understand his difficulty at school, and make available appropriate monitoring by a suitable multidisciplinary team to stimulate, control, and minimize the day-to-day difficulties found by patients with this syndrome.
Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE


  7 / 354 MEDLINE  
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PMID:26251461
Autor:Viuff MH; Stochholm K; Uldbjerg N; Nielsen BB; Gravholt CH; Danish Fetal Medicine Study Group
Dirección:Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.
Título:Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome.
Fuente:Hum Reprod; 30(10):2419-26, 2015 Oct.
ISSN:1460-2350
País de publicación:England
Idioma:eng
Resumen:STUDY QUESTION: How does a national prenatal screening program for Down syndrome (DS) perform in detecting sex chromosome abnormalities (SCAs)-Turner syndrome (TS), Klinefelter syndrome, 47,XXX and 47,XYY syndromes. SUMMARY ANSWER: The SCA detection rate resulting from DS screening was below 50% for all four groups of SCAs. WHAT IS KNOWN ALREADY: The detection rates of SCAs are higher in countries with DS screening. TS is associated with greater nuchal translucency (NT) and lower pregnancy-associated plasma protein-A (PAPP-A). However, specific detection rates of SCAs using prenatal DS screening have not been determined. No clear trend in PAPP-A, free beta human chorionic gonadotropin (ß-hCG) and NT has been found in the remaining SCAs. Several lines of inquiry suggest that it would be advantageous for individuals with SCA to be detected early in life, leading to prevention or treatment of accompanying conditions. There is limited information about pre- and perinatal status that distinguishes SCA embryogenesis from normal fetal development. STUDY DESIGN, SIZE, DURATION: A register-based case-control study from the Danish Central Cytogenetic Register (DCCR), cross-linked with the Danish Fetal Medicine Database (DFMD), was performed from 2008 to 2012. Groups of SCAs were compared with DS and then matched with non-SCA controls to assess differences between these groups in prenatal markers and birth outcomes. PARTICIPANTS/MATERIALS, SETTING, METHODS: We included cases with prenatal and post-natal SCA karyotypes (n = 213), DS (n = 802) and 168 056 controls. We screened 275 037 individuals examined prenatally. We retrieved information regarding maternal age, NT, ß-hCG and PAPP-A, as well as details regarding maternal and newborn characteristics. MAIN RESULTS AND THE ROLE OF CHANCE: The DS screening procedure detected 87 per 100 000 TS (42% of expected), 19 per 100 000 Klinefelter syndrome (13% of expected), 16 per 100 000 47,XXX (16% of cases) and 5 per 100 000 47,XYY (5% of expected) SCAs, with an overall detection rate of 27%. Compared with controls, all four SCA groups showed significantly higher NT and lower PAPP-A compared with controls (all P < 0.01) and similar to DS. The legal abortion rate was high for all four syndromes (47,XXX: 24%; 47,XYY: 29%; Klinefelter syndrome: 48%, TS: 84%). For SCA fetuses carried to term, only TS fetuses had consistently lower birthweights and placenta weights than non-SCA controls (both P = 0.0001). A few SCA cases localized in DCCR could not be found in DFMD (n = 16). LIMITATIONS, REASON FOR CAUTION: Controls were matched on sex of the fetus of cases, meaning that all electively aborted fetuses (before week 12) were excluded, possibly reducing the diversity in the control group. We were not able to localize all diagnosed cases of SCA and DS in DFMD. Although these cases were present in DCCR, we were not able to account for the discrepancy. In addition, we suspect that several SCA children have not been diagnosed yet and future post-natal diagnosis of these cases would reduce the diagnostic yield reported here even further. WIDER IMPLICATIONS OF THE FINDINGS: The prenatal detection rate is below 50% for all SCAs. The approach used for detecting DS cannot be extended to also include SCAs. In addition, all SCAs have low PAPP-A and increased NT, thus probably reflecting an abnormal embryogenesis. Growth retardation of TS fetuses is if anything more pronounced than previously reported, both when evaluating fetus and placenta. STUDY FUNDING/COMPETING INTERESTS: This study received support from Aarhus University and the Novo Nordisk Foundation. The authors have no competing interests that may be relevant to the study.
Tipo de publicación:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
Nombre de substancia:0 (Chorionic Gonadotropin, beta Subunit, Human); EC 3.4.24.- (Pregnancy-Associated Plasma Protein-A)


  8 / 354 MEDLINE  
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PMID:26206695
Autor:Park JH; Choi HW; Seo BY; Kang MG; Kim SH; Baek HJ; Kook H; Shin MG
Dirección:Department of Laboratory Medicine, Chonnam National University Hwasun Hospital, Hwasun-gun, Jeollanam-do, Korea.
Título:Immature teratoma and subsequent acute promyelocytic leukemia in a pediatric patient with XYY syndrome.
Fuente:Ann Lab Med; 35(5):544-7, 2015 Sep.
ISSN:2234-3814
País de publicación:Korea (South)
Idioma:eng
Tipo de publicación:CASE REPORTS; LETTER; RESEARCH SUPPORT, NON-U.S. GOV'T
Nombre de substancia:0 (Antineoplastic Agents); 0 (alpha-Fetoproteins)


  9 / 354 MEDLINE  
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PMID:26037355
Autor:Song Y; Jin X; Zhao D; Guo Z
Dirección:Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, P.R.China. df13607670608@163.com.
Título:[Morphology and pathogenesis of 47, XYY/47, XY, +mar identified in patients with super male syndrome].
Fuente:Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 32(3):378-80, 2015 Jun.
ISSN:1003-9406
País de publicación:China
Idioma:chi
Resumen:OBJECTIVE: To explore the source and morphology of supernumerary markers from patients with 47,XYY/47,XY, +mar and supermale syndrome. METHODS: Conventional GTG banded karyotyping and dual-color fluorescence in situ hybridization (FISH) were performed on 21 such patients. RESULTS: Among these cases, 18 had their small supernumerary marker derived from the Y chromosome. Three were derived from autosomal chromosomes. Those derived from Y chromosome were small fragments with centromeres, while those derived from autosomes were in the ring form. CONCLUSION: In children with supermale syndrome and 47,XYY/47,XY,+ mar, the supernumerary marker chromosomes primarily derive from sex chromosomes. These small chromosomes mainly have the forms of small segments with centromeres or rings. For such children, molecular cytogenetic analysis can facilitate genetic counseling and prenatal diagnosis.
Tipo de publicación:ENGLISH ABSTRACT; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T


  10 / 354 MEDLINE  
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PMID:25939399
Autor:Samango-Sprouse C; Stapleton EJ; Lawson P; Mitchell F; Sadeghin T; Powell S; Gropman AL
Título:Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY.
Fuente:Am J Med Genet C Semin Med Genet; 169(2):150-7, 2015 Jun.
ISSN:1552-4876
País de publicación:United States
Idioma:eng
Resumen:47, XXY occurs in up to 1 in 650 male births and is associated with androgen deficiency, neurodevelopmental delays, and atypical social-behaviors. Previously, we showed that young boys with 47, XXY who received early hormonal therapy (EHT) had significantly improved neurodevelopment. The objective of this follow-up study was to examine the effects of EHT on social behavior in boys with 47, XXY. The study consisted of boys prenatally diagnosed with 47, XXY who were referred for evaluations. Twenty-nine boys received three injections of 25 mg testosterone enanthate and 57 controls did not receive EHT. Behavioral functioning was assessed using the Behavior Rating Inventory of Executive Function, Social Responsiveness Scale, 2nd Ed., and the Child Behavior Checklist for Ages 6-18. The hypothesis that EHT may affect behavior was formulated prior to data collection. Questionnaire data was prospectively obtained and analyzed to test for significance between two groups. Significant differences were identified between group's scores over time in Social Communication (P=0.007), Social Cognition (P=0.006), and Total T-score (P=0.001) on the SRS-2; Initiation (P=0.05) on the BRIEF; and Externalizing Problems (P=0.024), Affective Problems (P=0.05), and Aggressive Behaviors (P=0.031) on the CBCL. This is the third study revealing positive effects of EHT on boys with XXY. There was a significant improvements associated with the 47, XXY genotype in boys who received EHT. Research is underway on the neurobiological mechanisms, and later developmental effects of EHT.
Tipo de publicación:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
Nombre de substancia:0 (Androgens); 3XMK78S47O (Testosterone); 7Z6522T8N9 (testosterone enanthate)



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