Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome

Huynh, Minh-Tuan; Riteau, Anne-Sophie; Moradkhani, Kamran; Pichon, Olivier; Richard, Sébastien; Joubert, Madeleine; Bézieau, Stéphane

doi:10.1016/j.ejmg.2020.104118

Cited by 3 publications

(2 citation statements)

References 12 publications

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“…In the individual years, data analysis from the year 2012-2016, the cases of NTDs seem to be declining per year with a 1 percent increase in the year 2013 (Figs. [5][6][7][8][9][10][11][12][13][14][15]. Whereas in cases reported per year with different types of NTDs, a speci c trend in the number of decrease in cases of NTDs is seen, no trend per year can be seen for any speci c type of disorder.…”

Section: Resultsmentioning

confidence: 99%

“…They result in many structural and functional alteration which results in different birth defects in the child. Such chemicals and radiations exposure during organogenesis can adversely affect the growing embryo and cause mutagenic effects leading to chromosomal abnormalities and syndromes (Huynh et al, 2021). It has been reported that trihalomethane in water has an interaction with folate related genes that can have more negative effects on women who are not taking folic acid supplements during their pregnancy and are at a high risk of NTDs in the child born to them (Sallman et al 2020).…”

Section: Etiology Of Ntdsmentioning

confidence: 99%

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Prevalence of Neural Tube Defects (NTDs) In And Around Varanasi Region: Some Observations

Pandey¹,

Pandey²,

Tiwari³

et al. 2021

Preprint

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Congenital anomalies are one of the primary causes of infant mortality and disability in the world. Neural Tube Defects (NTDs) are the most typical type of birth defect resulting from the failure of Neural tube closure. In this retrospective hospital-based study, the data of the children affected byneural tube defects (NTDs) were analyzed. Prevalence of Hydrocephalous, Myelomeningocele (MMC), Encephalocele, Lipo MMC, Meningocele, Spina Bifida Occulta among children with more or less than one year of age and their occurrence in males and females was studied. The frequency of occurrence of cases of neural tube defects was significantly less among all the congenital disabilities, i.e., 5% of total cases studied. The prevalence of myelomeningocele, hydrocephalous, and Encephalocele was higher than other types of NTDs. This study concludes that the prevalence of hydrocephalous and myelomeningocele in this area raises a concern to have more research of their etiology.

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Section: Resultsmentioning

confidence: 99%

Section: Etiology Of Ntdsmentioning

confidence: 99%

Prevalence of Neural Tube Defects (NTDs) In And Around Varanasi Region: Some Observations

Pandey¹,

Pandey²,

Tiwari³

et al. 2021

Preprint

View full text Add to dashboard Cite

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The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?

Zuffardi

Fichera

Bonaglia

2022

European Journal of Medical Genetics

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Prenatal Diagnosis of 18p Deletion and 8p Trisomy Syndrome: Case Report and Review of Literature

Papamichail,

Eleftheriades,

Manolakos

et al. 2023

Preprint

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18p deletion syndrome constitutes one of the most frequent autosomal terminal deletion syndromes, affecting one in 50,000 live births. The syndrome has un-specific clinical features which vary significantly between patients and may overlap with other genetic conditions. Its prenatal description is extremely rare as the fetal phenotype is often not present during pregnancy. Trisomy 8p Syndrome is characterized by heterogenous phenotype, with the most frequent components to be cardiac malformation, developmental and intellectual delay. Its prenatal diagnosis is very rare due to the unspecific sonographic features of the affected fetuses. We present a very rare case of a fetus with multiple anomalies diagnosed during the second trimester whose genomic analysis revealed a 18p Deletion and 8p trisomy Syndrome. This is the first case where this combination of DNA mutations has been described prenatally and the second case in general. The presentation of this case, as well as the detailed review of all described cases, aim to expand the existing knowledge regarding this rare condition facilitating its diagnosis in the future.

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Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome

Cited by 3 publications

References 12 publications

Prevalence of Neural Tube Defects (NTDs) In And Around Varanasi Region: Some Observations

Prevalence of Neural Tube Defects (NTDs) In And Around Varanasi Region: Some Observations

The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?

Prenatal Diagnosis of 18p Deletion and 8p Trisomy Syndrome: Case Report and Review of Literature

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