Down Syndrome
Polymorphisms of interleukin 6 in Down syndrome individuals: a case-control study
Authors: M.F. Mattos, L. Uback, P.M. Biselli-Chicote, J.M. Biselli, E.M. Goloni-Bertollo and E.C. Pavarino
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 witho.. Read More»
- Genet. Mol. Res. 16(3):
- gmr16039738
- DOI:
- 10.4238/gmr16039738
Analysis of GATA1 mutations and leukemogenesis in newborns with Down syndrome
Authors: L.B. Queiroz, B.D. Lima, J.F. Mazzeu, R. Camargo, M.S. C�³rdoba, I.Q. Magalh�£es, C. Martins-de-S�¡ and I. Ferrari
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.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.October.18.1
- DOI:
- 10.4238/2013.October.18.1
Buccal micronucleus frequency is associated with age in Down syndrome
Authors: F.L.S. Ferreira, D. Pr�¡, M.G. Martino-Roth and G.L. Garcias
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 n.. Read More»
- Genet. Mol. Res. 8(4):
- vol8-4gmr636
- DOI:
- 10.4238/vol8-4gmr636
Inheritance of balanced translocation t(17; 22) from a Down syndrome mother to a phenotypically normal daughter
Authors: X.Y. Liu, Y.T. Jiang, R.X. Wang, L.L. Luo, Y.H. Liu and R.Z. Liu
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 .. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.August.28.11
- DOI:
- http://dx.doi.org/10.4238/2015.August.28.11
Genetic analysis of STR markers on chromosome 21 in a Han population from southeast China
Authors: Y.N. Zhu, S.M. Lu, M. Wang, F.X. Shen, Y. Chen and J.J. Hu
Short tandem repeats (STRs) are highly polymorphic sequences and have been extensively used as genetic markers in mapping studies, disease diagnosis, and human identity testing. In this study, 11 STR markers on chromosome 21, including D21S1432, D21S11, D21S1246, D21S1412, D21S1437, D21S1442, D21S2039, D21S1270, D21S1435, D21S1409, and D21S1446, were anal.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.March.6.18
- DOI:
- 10.4238/2015.March.6.18
Combined folate gene MTHFD and TC polymorphisms as maternal risk factors for Down syndrome in China
Authors: Y.P. Liao, D. Zhang, W. Zhou, F.M. Meng, M.S. Bao, P. Xiang and C.Q. Liu
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 peripher.. Read More»
- Genet. Mol. Res. 13(1):
- http://dx.doi.org/2014.March.17.4
- DOI:
- http://dx.doi.org/10.4238/2014.March.17.4
Retrospective analysis of live birth prevalence of children with Down syndrome in Denizli, Turkey
Authors: Retrospective analysis of live birth prevalence of children with Down syndrome in Denizli, 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 re.. Read More»
- Genet. Mol. Res. 11(4):
Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil
Authors: J.M. Biselli, E.M. Goloni-Bertollo, B.L. Zampieri, R. Haddad, M.N. Eberlin and E.C. Pavarino-Bertelli
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.. Read More»
- Genet. Mol. Res. 7(1):
- vol7-1gmr388
- DOI:
- 10.4238/vol7-1gmr388
Identification of altered pathways in Down syndrome-associated congenital heart defects using an individualized pathway aberrance score
Authors: Y.Q. Chen, T. Li, W.Y. Guo, F.J. Su and Y.X. Zhang
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) .. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15027601
- DOI:
- 10.4238/gmr.15027601