Research Article

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Buccal cells; Down syndrome; genomic instability; Micronucleus

Down syndrome has been linked to premature aging and genomic instability. We examined the frequency of micronucleus (MN) and binucleated cells in the oral mucosa of Down syndrome patients and healthy controls matched by age and gender, addressing the effect of age and family income. Down syndrome individuals had an increased number of MN (14.30 ± 9.35 vs 4.03 ± 1.71; P 0.001) ... more

F.L.S. Ferreira; D. Prá; M.G. Martino-Roth; G.L. Garcias
Down syndrome; Genetic polymorphism; Nondisjunction; Trisomy 21

The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). Seventy-two DS mothers and 194 mothers who ... more

J.M. Biselli; E.M. Goloni-Bertollo; B.L. Zampieri; R. Haddad; M.N. Eberlin; E.C. Pavarino-Bertelli
Denizli; Down syndrome; Prevalence; Trisomy 21; Turkey

Down syndrome (DS) is the most frequent chromosome abnormality among live births. Its prevalence increases with maternal age, and can be diagnosed by antenatal screening. We examined prevalence variations of DS in Denizli, Turkey, through a retrospective study. Sixteen years of survey data were retrieved from the two main state hospital registries from records between 1994 and 2010. We ... more

I. Acikbas; A.G. Tomatir; B. Akdag; A. Köksal
Down syndrome; Folate; MTHFD; Polymorphisms; Transcobalamin gene

We examined whether polymorphisms in the methylenetetrahydrofolate dehydrogenase (MTHFD) and transcobalamin (TC) genes, which are involved in folate metabolism, affect maternal risk for Down syndrome. We investigated 76 Down syndrome mothers and 115 control mothers from Bengbu, China. Genomic DNA was isolated from the peripheral lymphocytes. Polymerase chain reaction and ... more

Y.P. Liao; D. Zhang; W. Zhou; F.M. Meng; M.S. Bao; P. Xiang; C.Q. Liu
Down syndrome; GATA1 mutation; Minimal residual disease; Myeloid leukemia in DS; Transient myeloproliferative disorder

It has been reported that patients with Down syndrome (DS) frequently develop transient myeloproliferative disorder (TMD) and less commonly myeloid leukemia in DS (ML-DS). We examined the pathogenetic relationship of these conditions with somatic mutations of the GATA1 gene in children with both TMD and ML-DS. To determine the incidence of GATA1 mutations in a cohort of ... more

L.B. Queiroz; B.D. Lima; J.F. Mazzeu; R. Camargo; M.S. Córdoba; I.Q. Magalhães; C. Martins-de-Sá; I. Ferrari
Down syndrome; Fertility; Heredity; Reciprocal translocation

We report that a 30-year-old woman with mental retardation was referred for prenatal diagnoses during pregnancy. An ultrasound scan showed that the heart structure and function of the fetus were normal. Cytogenetic analysis showed that the female karyotype was 47,XX, t(17; 22) (q21; q11), +21. The woman’s husband had a normal male karyotype and was phenotypically normal. During this first ... more

X.Y. Liu; Y.T. Jiang; R.X. Wang; L.L. Luo; Y.H. Liu; R.Z. Liu
Congenital heart defect; Down syndrome; Individualized pathway aberrance score (iPAS)

The aim of this study was to identify disrupted pathways related to Down syndrome (DS), and DS-associated congenital heart defects (DS-CHD). The gene expression profile and pathway data of 10 human DS patients and 5 control samples in E-GEOD-1789 were recruited and analyzed by the individualized pathway aberrance score (iPAS) method, consisting of the data processing, gene-level ... more

Y.Q. Chen; T. Li; W.Y. Guo; F.J. Su; Y.X. Zhang; Y.Q. Chen; T. Li; W.Y. Guo; F.J. Su; Y.X. Zhang; Y.Q. Chen; T. Li; W.Y. Guo; F.J. Su; Y.X. Zhang
2017 Aug 17
Adolescent; Adult; Case-control studies; Child; Child, Preschool; Down syndrome; Female; Humans; Infant; Interleukin-6; male; Polymorphism, Single Nucleotide

Down syndrome (DS) individuals present impaired adaptive immune system. However, the etiology of the immunological deficiency in these individuals is not completely understood. This study investigated the frequency of interleukin 6 polymorphisms (rs1800795, rs1800796, and rs1800797) in individuals with DS and individuals without the syndrome. The study included 282 individuals, 94 with DS ... more

M.F. Mattos; L. Uback; P.M. Biselli-Chicote; J.M. Biselli; E.M. Goloni-Bertollo; E.C. Pavarino
2017 Sep 27
Down syndrome; Heart Defects, Congenital; Humans; Infant; Karyotype; Klinefelter syndrome; male

Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B ... more

M.A. Rodrigues; L.F. Morgade; L.F.A. Dias; R.V. Moreira; P.D. Maia; A.F.H. Sales; P.D. Ribeiro
eNOS; Essential hypertension; Han population; Haplotype; SNPs

Endothelial nitric oxide synthase (eNOS) plays an important role in maintaining blood pressure homeostasis and vascular integrity. Polymorphisms in the eNOS gene have been found to be associated with hypertension in different human populations, including Northern and Southern Chinese Han populations. To examine the relationship of three eNOS gene polymorphisms, T-786C ( ... more

J. Li; Y. Cun; W.R. Tang; Y. Wang; S.N. Li; H.R. Ouyang; Y.R. Wu; H.J. Yu; C.J. Xiao