Prenatal diagnosis in monozygotic twins with Down syndrome who had different phenotypes

Grynberg, M.; Graesslin, Olivier; Teyssèdre, J.; Quereux, C.; Gaillard, Dominique; Carré-Pigeon, F.

doi:10.1002/pd.1711

Cited by 5 publications

(2 citation statements)

References 19 publications

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“…Additionally, we used amniocytes from a pair of MZ twins concordant for T21, but discordant for CHD (AVSD, Atrio Ventricular Septal Defect) ( Table 1 , samples 7 and 8). This twin set was obtained from Institut mère-enfant Alix de Champagne in France [ 15 ]. Moreover, primary fibroblasts from two pairs of healthy unaffected MZ twins (both normal euploid twins) have been used ( Table 1 , samples 9, 10, 11, and 12).…”

Section: Methodsmentioning

confidence: 99%

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

et al. 2015

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DNA methylation is essential in mammalian development. We have hypothesized that methylation differences induced by trisomy 21 (T21) contribute to the phenotypic characteristics and heterogeneity in Down syndrome (DS). In order to determine the methylation differences in T21 without interference of the interindividual genomic variation, we have used fetal skin fibroblasts from monozygotic (MZ) twins discordant for T21. We also used skin fibroblasts from MZ twins concordant for T21, normal MZ twins without T21, and unrelated normal and T21 individuals. Reduced Representation Bisulfite Sequencing (RRBS) revealed 35 differentially methylated promoter regions (DMRs) (Absolute methylation differences = 25%, FDR < 0.001) in MZ twins discordant for T21 that have also been observed in comparison between unrelated normal and T21 individuals. The identified DMRs are enriched for genes involved in embryonic organ morphogenesis (FDR = 1.60 e -03) and include genes of the HOXB and HOXD clusters. These DMRs are maintained in iPS cells generated from this twin pair and are correlated with the gene expression changes. We have also observed an increase in DNA methylation level in the T21 methylome compared to the normal euploid methylome. This observation is concordant with the up regulation of DNA methyltransferase enzymes (DNMT3B and DNMT3L) and down regulation of DNA demethylation enzymes (TET2 and TET3) observed in the iPSC of the T21 versus normal twin. Altogether, the results of this study highlight the epigenetic effects of the extra chromosome 21 in T21 on loci outside of this chromosome that are relevant to DS associated phenotypes.

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Section: Methodsmentioning

confidence: 99%

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

et al. 2015

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“…Recently, Grynberg et al. 14 reported MZ twins with Down syndrome who had different phenotypes. One twin showed mild dysmorphic features, including a moon‐shaped face, flat nasal bridge, low‐set ears, abundant nuchal skin, macroglossia, and transversal palmar crease, while the other revealed dysmorphic features of trisomy 21, including flat occiput, moon‐shaped face, flat nasal bridge, upward‐slanting palpebral fissures, low‐set ears, macroglossia, clinodactyly of the fifth fingers, transversal palmar crease, and complete atrioventricular septal defect.…”

Section: Discussionmentioning

confidence: 99%

Monochorionic twins with the same blood karyotype of 46,XY/47,XYY but different phenotypes

Wuttikonsammakit

Tanawattanacharoen

Uerpairojkit

2010

J of Obstet and Gynaecol

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We report the case of a 13-year-old woman who was pregnant with phenotypically discordant monochorionic twins: one with cystic hygroma and hydrops, the other one normal. Fetal blood sampling was performed by intrahepatic blood collection for karyotyping of both fetuses, revealing the same genotype of 46,XY/47,XYY in 2:1 proportion. Phenotypic discordance in monozygotic twins can have various causes, such as placental vascular anatomy, differences in allocation of the number of blastomeres or genetic postzygotic events.

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Identical but not the same: The value of discordant monozygotic twins in genetic research

Zwijnenburg

Meijers-Heijboer

Boomsma³

2010

American J of Med Genetics Pt B

127

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Monozygotic (MZ) twins show remarkable resemblance in many aspects of behavior, health, and disease. Until recently, MZ twins were usually called "genetically identical"; however, evidence for genetic and epigenetic differences within rare MZ twin pairs has accumulated. Here, we summarize the literature on MZ twins discordant for Mendelian inherited disorders and chromosomal abnormalities. A systematic literature search for English articles on discordant MZ twin pairs was performed in Web of Science and PubMed. A total number of 2,016 publications were retrieved and reviewed and 439 reports were retained. Discordant MZ twin pairs are informative in respect to variability of phenotypic expression, pathogenetic mechanisms, epigenetics, and post-zygotic mutagenesis and may serve as a model for research on genetic defects. The analysis of single discordant MZ twin pairs may represent an elegant approach to identify genes in inherited disorders.

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Prenatal diagnosis in monozygotic twins with Down syndrome who had different phenotypes

Cited by 5 publications

References 19 publications

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

Monochorionic twins with the same blood karyotype of 46,XY/47,XYY but different phenotypes

Identical but not the same: The value of discordant monozygotic twins in genetic research

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