Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report

Leone, Paola; Yumiceba, Verónica; Solange, Jijón-Vergara, Ariana; Pérez-Villa, Andy; Armendáriz‐Castillo, Isaac; Garcí­a-Cárdenas, Jennyfer M.; Guerrero, Santiago; Guevara-Ramí­rez, Patricia; López‐Cortés, Andrés; Zambrano, Ana Karina; Hernández-Rivas, Jesús M.; Garcı́a, Juan Luis; Paz‐y‐Miño, César

doi:10.1186/s13039-020-00515-0

Cited by 6 publications

(7 citation statements)

References 29 publications

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“…Para Leone (2020), el síndrome de Turner es un trastorno genético que perjudica a las mujeres. Es causada por un cromosoma X ausente o incompleto, que puede presentarse en mosaicismo o no.…”

Section: Síndrome De Turnerunclassified

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Desarrollo integral de una persona con discapacidad psicosocial y síndrome de Turner. Historia de vida

Floril

Ceme

2022

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En este estudio se relata el desarrollo integral en base persona con multidiscapacidad como un proceso evolutivo multidimensional e integral, basado en las vivencias de la cotidianeidad de la familia de la persona en estudio identificado como Rebecca, siendo el inicio de esta narrativa y el motivo de la investigación, como protagonista principal de esta historia. El propósito de este estudio es el de demostrar el motivo por el cual el desarrollo integral mediante el fortalecimiento de todas las dimensiones, potencia el procedimiento de aprendizaje de un individuo con discapacidad psicosocial y síndrome de Turner. Para la realización de este estudio se aplica un método de investigación cualitativa y explicativa, así mismo como el de la directa visualización, se usa esta clase de investigación debido a que es la que tiene todas las expectativas pretendidas para tener la información requerida con el desarrollo de este documento. De acuerdo a lo que corresponde con lo repasado se considera al estudio de campo; con la ejecución entrevistas a 3 expertos; revisión con los padres de familia para desarrollar la historia de vida del sujeto en estudio. Como resultado relevante el presente estudio permitió evidenciar la potencialidad, importancia y relevancia del apoyo familiar dentro de los procedimientos de enseñanza aprendizaje y de socialización que se requería para el desarrollo integral del sujeto de investigación. El suceso investigado ha posibilitado exhibir que los requerimientos académicos se atienden de manera elemental mediante una escolarización regida en las motivaciones sensoriales.

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Section: Síndrome De Turnerunclassified

“…Para el autor existen cuatro aspectos clínicos fundamentales, a saber: Fenotipo femenino; Corta estatura, con algunas excepciones; Infantilismo sexual debido a cromosomas anormales; Una variedad de anormalidades somáticas asociadas dentro de las cuales sobresalen el pterigium colli (Leone, 2020).…”

Section: Síndrome De Turnerunclassified

Desarrollo integral de una persona con discapacidad psicosocial y síndrome de Turner. Historia de vida

Floril

Ceme

2022

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“…[1][2][3]. As a rare structural recombination, CCR can be balanced or unbalanced [4,5]. Individuals carrying CCR can be phenotypically normal or exhibit clinical abnormalities [6].…”

Section: Prefacementioning

confidence: 99%

A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes

Luo

Zhang

et al. 2022

Mol Cytogenet

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Complex chromosomal rearrangements (CCR) are rare chromosomal structural abnormalities. The chromosomal structural variants in CCR carriers are one of the factors contributing to a history of adverse pregnancy and childbirth. In this study, we report a patient with a history of adverse pregnancy and childbirth who exhibited complex balanced chromosomal translocations. The female patient was phenotypically and intellectually normal; in her first pregnancy, the embryo was damaged, and a histological examination of the chromosomes of the embryos revealed a deletion of approximately 4.66 Mb at 1p32.3p32.2, a duplication of approximately 1.02 Mb at 1p22.2p22.1, a duplication of approximately 1.46 Mb at 6q27 and a deletion of approximately 7.78 Mb at 9p24.3p24.1. Chromosomal examinations of the patient revealed the karyotype to be 46,XX,(1;9)(p32; p34). In the second pregnancy, the foetus was diagnosed prenatally with three or more positive ultrasound soft indicators. The patient's karyotype was re-examined and further confirmed by fluorescence in situ hybridisation as 46,XX,t(1;9;6)(p31;p22;q27), revealing this patient was a carrier of complex balanced chromosomal translocations. Carriers of CCR have a higher risk of spontaneous abortion, and genetic counselling clinicians should consider the karyotype analyses of such patients in clinical practice and recheck their chromosomes if necessary.

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“…Other features are a low posterior hairline, pterygium colli (short, webbed neck), and other small features such as low set ears and nail hypoplasia. The posture of the females are musculine, with wide-spaced, inverted nipples and a shield-shaped thorax [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

Complication of Orthodontic Treatment: A Case Report on Severe Apical Root Resorption (ARR) in a Patient with Turner Syndrome

Laskowska,

Paradowska-Stolarz,

Miralles-Jordá

et al. 2024

Children

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External apical root resorption in permanent teeth is a multifactorial process influenced by a variety of local and systemic factors. This report describes a case of multiple and severe apical root resorptions in a patient with Turner syndrome. The condition was discovered in a young female with Turner syndrome after 30 months of orthodontic treatment with fixed appliance. The purpose of this report is to present reports by other authors on the potential causes of the increased risk of tooth resorption in patients with Turner syndrome and to share insights derived from its course, highlighting the implications and lessons learned. Patients with Turner syndrome are not ideal candidates for orthodontic treatment. Prior to commencing orthodontic treatment, it is essential to carefully consider the potential benefits of the therapy compared to the risk associated with exacerbating root resorption. In the case of Turner syndrome patients, where there is an elevated risk of such complications, a thorough analysis should be conducted to determine whether the expected benefits of the treatment outweigh the potential hazards to the patient’s dental health.

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Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report

Cited by 6 publications

References 29 publications

Desarrollo integral de una persona con discapacidad psicosocial y síndrome de Turner. Historia de vida

Desarrollo integral de una persona con discapacidad psicosocial y síndrome de Turner. Historia de vida

A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes

Complication of Orthodontic Treatment: A Case Report on Severe Apical Root Resorption (ARR) in a Patient with Turner Syndrome

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