Mosaic trisomy 11 in a fetus with bilateral renal agenesis

Balasubramanian, Meena; Peres, Luíz César; Pelly, Dorothy

doi:10.1097/mcd.0b013e32833ff2e9

Cited by 12 publications

(4 citation statements)

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“…The deletion size of patients helps us to understand phenotype-genotype correlations [Krishnamurti et al, 2001;Fujita et al, 2010]. Mosaic trisomy 11 has been reported earlier by Wilmot et al [1983] and Balasubramanian et al [2010]. Our case Fryns et al, 1986Laleye et al, 2002Giampietro et al, 2006Bernaciak et al, 2008So et al, 2013Tassano et al, 2016 Age showed no mosaic trisomy 11.…”

Section: Discussionsupporting

confidence: 60%

First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)

Yalçıntepe¹,

Zhuri²,

Guler³

et al. 2022

Mol Syndromol

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Jacobsen syndrome is a rare congenital disorder that is caused by the deletion of several genes in chromosome 11. A 10-year-old female with congenital heart disease, dextrocardia, and coarse facial appearance was examined in our medical genetics clinic. Chromosome analysis and array-CGH showed a copy number loss of 9 Mb in the 11q24.2q25 region. Herein, we report her clinical findings. This is the first case of Jacobsen syndrome with dextrocardia.

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Section: Discussionsupporting

confidence: 60%

First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)

Yalçıntepe¹,

Zhuri²,

Guler³

et al. 2022

Mol Syndromol

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“…Trisomy 11 was detected in one fetus (POC39). Full trisomy 11 has not been reported in live births and presumably leads to early pregnancy loss (Balasubramanian et al, 2011). Few cases with partial trisomy 14q were reported with carrying pericentric inversion in one of the parents and proband with recombinant chromosome 14 (Kurtulgan et al, 2015).…”

Section: Discussionmentioning

confidence: 99%

Insights in Genetics of Common and Rare Diseases: 2022

2024

Frontiers Research Topics

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Frontiers is more than just an open access publisher of scholarly articles: it is a pioneering approach to the world of academia, radically improving the way scholarly research is managed. The grand vision of Frontiers is a world where all people have an equal opportunity to seek, share and generate knowledge. Frontiers provides immediate and permanent online open access to all its publications, but this alone is not enough to realize our grand goals. Frontiers journal seriesThe Frontiers journal series is a multi-tier and interdisciplinary set of openaccess, online journals, promising a paradigm shift from the current review, selection and dissemination processes in academic publishing. All Frontiers journals are driven by researchers for researchers; therefore, they constitute a service to the scholarly community. At the same time, the Frontiers journal series operates on a revolutionary invention, the tiered publishing system, initially addressing specific communities of scholars, and gradually climbing up to broader public understanding, thus serving the interests of the lay society, too. Dedication to qualityEach Frontiers article is a landmark of the highest quality, thanks to genuinely collaborative interactions between authors and review editors, who include some of the world's best academicians. Research must be certified by peers before entering a stream of knowledge that may eventually reach the public -and shape society; therefore, Frontiers only applies the most rigorous and unbiased reviews. Frontiers revolutionizes research publishing by freely delivering the most outstanding research, evaluated with no bias from both the academic and social point of view. By applying the most advanced information technologies, Frontiers is catapulting scholarly publishing into a new generation. What are Frontiers Research Topics?Frontiers Research Topics are very popular trademarks of the Frontiers journals series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area.

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“…Trisomy 11 was detected in one fetus (POC39). Full trisomy 11 has not been reported in live births and presumably leads to early pregnancy loss ( Balasubramanian et al, 2011 ). Few cases with partial trisomy 14q were reported with carrying pericentric inversion in one of the parents and proband with recombinant chromosome 14 ( Kurtulgan et al, 2015 ).…”

Section: Discussionmentioning

confidence: 99%

Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population

et al. 2023

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Background: Recurrent pregnancy loss (RPL) is one of the most common pregnancy-related complications, which can be stressful and emotionally draining for a couple. Genetic alterations, which are responsible for RPL, can be present in either of the three genomes: mother, father, or their fetuses. In addition, environmental factors interacting with these three genomes can affect germline cells. With this aim, the present study was conducted to understand the underlying etiology of RPL using Next-generation sequencing (NGS; couple exome and TRIO exomes) in combination with cytogenetic tests [karyotyping and chromosomal microarray (CMA)].Material & Methods: In present study we recruited 61 couples with RPL (history of ≥ 2 abortions) and 31 products of conceptions (POCs). For all couples karyotyping was done at the time of recruitment, followed by collection of POC samples and parental blood samples. Before processing POC samples for CMA, they were checked for maternal cell contamination (MCC) by QF-PCR. In POC samples with no pathogenic variant, TRIO exome sequencing was done. Further, in case of unavailability of POC sample, couple exome sequencing was done for RPL couples.Results: In six individuals out of 61 couples (5%), abnormality in karyotypes was detected. Among 116 normal karyotypes, there were 11 heteromorphisms (9.5%), for which the couples had to be counselled and reassured. Out of the 31 POCs, 10 were excluded because of MCC (around 30%) and one had major aneuploidy. CMA in POCs identified pathogenic copy number variations (CNVs) in 25% of cases (5/20) and variant of unknown significance (VUS) in 20% of cases (4/20). Autosomal trisomy was the most frequent chromosomal abnormality diagnosed. NGS was performed to establish single-gene causes of RPL. Couple exome sequencing was performed in 20 couples, and 14 were found to be carriers for autosomal recessive conditions. A total of 50 potential disease-causing variants in 40 genes were identified in 33 of 40 individuals (82.5%). Putative causative variants were identified in 37.5% of the TRIO cases (3/8). Mutations in few important genes (SRP54, ERBB4, NEB, ALMS, ALAD, MTHFR, F5, and APOE), which are involved in vital pathways, early embryonic development, and fetal demise, were identified in the POCs.Conclusion: It enhances our understanding of prenatal phenotypes of many Mendelian disorders. These mutated genes may play an auxiliary role in the development of treatment strategies for RPL. There was no correlation of the number of abortions with etiological yield of any technique to detect the cause of RPL. This study shows the utilization of combination of techniques in improving our understanding of the cause of early embryonic lethality in humans.

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Mosaic trisomy 11 in a fetus with bilateral renal agenesis

Cited by 12 publications

References 10 publications

First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)

First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)

Insights in Genetics of Common and Rare Diseases: 2022

Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population

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