Trisomía 18 en mosaico. Serie de casos.

Cammarata‐Scalisi, Francisco; Lacruz-Rengel, María Angelina; Araque, Dianora; Silva, Gloria Da; Avendaño, Andrea; Callea, Michele; Stock, Frances; Guerrero, Yudith; Aguilar, Eliomar; Lacruz, María J; Sulbaran, Jesús

doi:10.5546/aap.2017.e183

Cited by 2 publications

(1 citation statement)

References 7 publications

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“…The clinical spectrum is broad, more than 130 different abnormalities having been described in these patients and the presence of defective closure of the neural tube among patients with trisomy 18 is not uncommon [ 13 ]. In a previous study on a series of mosaic trisomy 18, we did not find ACC in five cases studied [ 14 ].…”

Section: Case Reportmentioning

confidence: 62%

Membranous aplasia cutis congenita in trisomy 18

Cammarata‐Scalisi

Diociaiuti

Guerrero³

et al. 2020

Ital J Pediatr

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Background: Aplasia cutis congenita (ACC) is a rare congenital condition characterized by the absence of skin layers and sometimes other underlying structures, in a localized or widespread area. The exact etiopathogenesis is not yet completely understood. Membranous ACC (MACC) also described as bullous or cystic ACC is a clinical subtype of ACC, covered with a membranous or glistening surface, and appears as a flat scar. There are less than 20 cases reported in the literature. It has been proposed an abortive form of a defective closure of the neural tube. On the other hand, the trisomy 18 is a chromosomal abnormality characterized by a broad clinical spectrum and the presence of defective closure of the neural tube. Case presentation: We report on an 18-months-old Venezuelan boy, who presented on the parietal scalp a distinctive localized MACC appearing as an oval lesion covered with a membranous surface, characterized by the absence of hairs and the presence of a sharp hair collar. The karyotype in peripheral blood was 47,XY,+ 18. Conclusions: This is the second case report of ACC in trisomy 18 and reinforces the interpretation of a nonfortuitous association as well as of a defective closure of the neural tube as pathogenetic mechanism. The case highlights the importance of examining for dermatological alterations such as ACC in cases of chromosomopathy.

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Section: Case Reportmentioning

confidence: 62%

Membranous aplasia cutis congenita in trisomy 18

Cammarata‐Scalisi

Diociaiuti

Guerrero³

et al. 2020

Ital J Pediatr

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Future Perspectives in Oxidative Stress in Trisomy 13 and 18 Evaluation

Buczyńska

Sidorkiewicz

Hameed

et al. 2022

JCM

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Autosomal aneuploidies are the most frequently occurring congenital abnormalities and are related to many metabolic disorders, hormonal dysfunctions, neurotransmitter abnormalities, and intellectual disabilities. Trisomies are generated by an error of chromosomal segregation during cell division. Accumulating evidence has shown that deregulated gene expression resulting from the triplication of chromosomes 13 and 18 is associated with many disturbed cellular processes. Moreover, a disturbed oxidative stress status may be implicated in the occurrence of fetal malformations. Therefore, a literature review was undertaken to provide novel insights into the evaluation of trisomy 13 (T13) and 18 (T18) pathogeneses, with a particular concern on the oxidative stress. Corresponding to the limited literature data focused on factors leading to T13 and T18 phenotype occurrence, the importance of oxidative stress evaluation in T13 and T18 could enable the determination of subsequent disturbed metabolic pathways, highlighting the related role of mitochondrial dysfunction or epigenetics. This review illustrates up-to-date T13 and T18 research and discusses the strengths, limitations, and possible directions for future studies. The progressive unification of trisomy-related research protocols might provide potential medical targets in the future along with the implementation of the foundation of modern prenatal medicine.

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Trisomía 18 en mosaico. Serie de casos.

Cited by 2 publications

References 7 publications

Membranous aplasia cutis congenita in trisomy 18

Membranous aplasia cutis congenita in trisomy 18

Future Perspectives in Oxidative Stress in Trisomy 13 and 18 Evaluation

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