Cri du chat syndrome: first report of mosaicism in the colombian southwest

Medicina y Laboratorio

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Title Cri du chat syndrome: first report of mosaicism in the colombian southwest
Síndrome de Cri du chat: primer reporte en mosaico en el suroccidente colombiano
 
Creator Acosta-Aragón, María A.
Sierra-Zúñiga, Marco F.
 
Subject Cri-du-chat syndrome, chromosome 5, chromosome deletion, mosaicism.
síndrome del maullido del gato, cromosoma 5, deleción cormosómica, mosaicismo.
 
Description Cri du chat syndrome is a chromosomal disorder caused by deletions in the short arm of chromosome 5, which vary in size, from very small and involving only the 5p15.2 locus, to the loss of the entire short arm. Mutations originate de novo in 80% to 90% of cases. There are two critical regions for Cri du chat syndrome; one located at 5p15.3 with a deletion that is manifested as a cat’s cry and speech delay, and another located at 5p15.2 with a deletion that manifests as microcephaly, hypertelorism, severe psychomotor and mental retardation. Several involved genes located in these critical regions have been described; among them, TERT, SEMA5A, CTNND2 and MARCHF6, and whose haploinsufficiency is associated with the different phenotypes of Cri du chat. This article describes the clinical case of an 8-monthold female patient, with clinical characteristics and a mosaic cytogenetic analysis that confirmed Cri du chat syndrome. This case is the first reported of this variant in southwestern Colombia.
El síndrome de Cri du chat es una alteración cromosómica causada por deleciones en el brazo corto de cromosoma 5, las cuales varían en tamaño, desde muy pequeñas que comprometen solo el locus 5p15.2, hasta la pérdida de todo el brazo corto. Las mutaciones se originan de novo en el 80% a 90% de los casos. Existen dos regiones críticas para el síndrome de Cri du chat; una ubicada en 5p15.3, cuya deleción se manifiesta con el llanto de maullido de gato y retraso en el habla, y otra ubicada en 5p15.2, cuya deleción se manifiesta como microcefalia, hipertelorismo,retraso psicomotor y mental severo. Se han descrito varios genes implicados localizados en estas regiones críticas; entre ellos, TERT, SEMA5A, CTNND2 y MARCHF6, cuya haploinsuficiencia se asocia con los diferentes fenotipos del Cri du chat. En este artículo se describe el caso clínico de una paciente femenina de 8 meses de vida, con características clínicas y un análisis citogenético en mosaico que confirmaron el síndrome de Cri du chat. Este caso es el primero reportado de esta variante en el suroccidente colombiano.
 
Publisher EDIMECO S.A.
 
Date 2020-09-29
 
Type info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
 
Format application/pdf
 
Identifier https://medicinaylaboratorio.com/index.php/myl/article/view/339
10.36384/01232576.339
 
Source Medicina & Laboratorio; Vol. 24 No. 4 (2020): Octubre-Diciembre; 317-324
Medicina y Laboratorio; Vol. 24 Núm. 4 (2020): Octubre-Diciembre; 317-324
2500-7106
0123-2576
 
Language spa
 
Relation https://medicinaylaboratorio.com/index.php/myl/article/view/339/324
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Rights https://creativecommons.org/licenses/by-nc-nd/4.0
 

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