Monozygotic twins discordant for Ullrich‐Turner syndrome

Weiss, Edra; Loevy, Hannelore T.; Saunders, A P; Pruzansky, Samuel; Rosenthal, Ira M.; Opitz, John M.

doi:10.1002/ajmg.1320130407

Cited by 17 publications

(20 citation statements)

References 13 publications

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“…This study presents a systematic analysis of twin blood chimerism across multiple conditions and tests its effect on finding discordant variations using high throughput (Rogers et al, 1982) H:30% A:85% Turner syndrome (Rohrer et al, 2004) H:18% A:87% Turner syndrome (Kaplowitz et al, 1991) H:2% A:97% Turner syndrome (Uchida et al, 1983) H:0% A:74% Turner Syndrome (Weiss et al, 1982) H:10% A:70% Turner Syndrome (Pedersen et al, 1980) H:87% A:30% Turner Syndrome (Potter & Taitz, 1972) H:40% A:56% 46,XX,der(15)t(11;15)(p12;p11.2) Affected twin showed a mild somatic mosaicism of 5%. (Marcus-Soekarman et al, 2004) H1:0% H2:0% A: 100% Turner syndrome MZ triplet with two males and one female.…”

Section: Discussionmentioning

confidence: 99%

Blood Ties: Chimerism Can Mask Twin Discordance in High-Throughput Sequencing

Erlich¹

2011

Twin Res Hum Genet

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Twin studies have long provided a means to separate the contributions of genetic and environmental factors. A recent pioneering report by Baranzini et al. presented an analysis of the complete genomes and epigenomes of a monozygotic (MZ) twin pair discordant for multiple sclerosis. This failed to find any difference between the twins, raising doubts regarding the value of whole-genome twin studies for defining disease susceptibility alleles. However, the study was carried out with DNA extracted from blood. In many cases, the hematopoietic lineages of MZ twins are chimeric due to twin-to-twin exchange of hematopoietic stem cells during embryogenesis. We therefore wondered how chimerism might impact the ability to identify genetic differences. We inferred the blood chimerism rates and profiles of more than 30 discordant twin cases from a wide variety of medical conditions. We found that the genotype compositions of the twins were highly similar. We then benchmarked the performance of SNP callers to detect discordant variations using high-throughput sequencing data. Our analysis revealed that chimerism patterns, well within the range normally observed in MZ twins, greatly reduce the sensitivity of SNP calls. This raises questions regarding any conclusions of genomic homogeneity that might be drawn from studies of blood-derived twin DNA.

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Section: Discussionmentioning

confidence: 99%

Blood Ties: Chimerism Can Mask Twin Discordance in High-Throughput Sequencing

Erlich¹

2011

Twin Res Hum Genet

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“…The occurrence of UTS in one or both of presumably MZ twins has been reported several times since 1961 and the major manifestations of these unusual cases have been reviewed [Weiss et al, 1982;Al-Awadi et al, 19831. Most of them fall into three categories: 1) those in which both twins are affected; 2) those in which there is an apparently normal male and an affected female; and 3) those in which there is one apparently normal female and one affected female.…”

Section: Discussionmentioning

confidence: 97%

“…Since the first cases of monozygotic twins discordant for Ullrich-Turner syndrome (UTS) were reported 30 years ago [Turpin et al, 19611, there have been several additional reports of this rare and puzzling phenomenon [Mikkelsen et al, 1963;Potter and Taitz, 1972;Weiss et al, 1982;Al-Awadi et al, 1983;Uchida et al, 19831. These cases often present a diagnostic challenge because the results of peripheral blood karyotypes may not correlate with their different phenotypes. We studied 91h-year-old girls who had been considered monozygotic (MZ) twins based on blood group analysis but who had obvious differences in their growth patterns and physical appearance.…”

Section: Introductionmentioning

confidence: 98%

Monozygotic twins discordant for Ullrich‐Turner syndrome

Bodurtha

Brown

et al. 1991

Am. J. Med. Genet.

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We describe 9-year-old twin girls who were thought to be monozygotic but who differed greatly in physical appearance and growth pattern. One twin had Ullrich-Turner syndrome (UTS), 45,X/46,XX mosaicism in peripheral blood, and only 45,X cells in skin fibroblasts. The phenotypically normal twin also had 45,X/46,XX mosaicism in blood but only 46,XX cells in cultured fibroblasts. Analysis of DNA marker patterns in blood lymphocytes and in skin fibroblasts confirmed monozygosity with a probability of 99.97%. This case is compared with other reported cases of discordance for UTS in twins. It is concluded that essentially all of the differences between the two twins can be explained by loss of an X chromosome early in embryogenesis with complete separation of 45,X and 46,XX cell lineages at the time of the twinning event. The presence of mosaicism in the peripheral blood of both twins is presumably due to anastomoses between the placentae resulting in a mixture of the two cell populations in the hematopoietic tissue.

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“…MZ twins discordant for aneuploidy have been recognized for several decades; discordant MZ twins have been reported for monosomy X, trisomy 1, trisomy 13, and trisomy 21 [Rogers et al, 1982;Weiss et al, 1982;Gilgenkrantz and Janot, 1983;Uchida et al, 1983;Reiss et al, 1993;Nieuwint et al, 1999;O'Donnell et al, 2004;Rohrer et al, 2004;Cheng et al, 2006;Sethupathy et al, 2007;Dahoun et al, 2008;Gentilin et al, 2008;Taylor et al, 2008]. Moreover, unbalanced chromosomal abnormalities have been described in one member from an MZ twin pair [Marcus-Soekarman et al, 2004;Bourthoumieu et al, 2005].…”

Section: Mz Twins Discordant For Chromosomal Abnormalities and Mendelmentioning

confidence: 95%

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

128

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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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Monozygotic twins discordant for Ullrich‐Turner syndrome

Cited by 17 publications

References 13 publications

Blood Ties: Chimerism Can Mask Twin Discordance in High-Throughput Sequencing

Blood Ties: Chimerism Can Mask Twin Discordance in High-Throughput Sequencing

Monozygotic twins discordant for Ullrich‐Turner syndrome

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

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