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Clinical, Phenotypic, and Demographic Characteristics of Peruvian Children and Neonates with Autosomal and Sex Chromosome Aneuploidies

OBJECTIVE: Autosomal and sex chromosome aneuploidies are associated with multiple risk factors that determine their frequency and their social and health impact. We aimed to determine the clinical, phenotypic, and demographic characteristics of Peruvian children and neonates with autosomal and sex c...

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Autores principales: Moya-Salazar, Jeel, Rojas-Zumaran, Víctor, Vega-Vera, Rafael, Espinoza-Lecca, Eduardo, Contreras-Pulache, Hans
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Atatürk University School of Medicine 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10081043/
https://www.ncbi.nlm.nih.gov/pubmed/36861858
http://dx.doi.org/10.5152/eurasianjmed.2023.22070
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author Moya-Salazar, Jeel
Rojas-Zumaran, Víctor
Vega-Vera, Rafael
Espinoza-Lecca, Eduardo
Contreras-Pulache, Hans
author_facet Moya-Salazar, Jeel
Rojas-Zumaran, Víctor
Vega-Vera, Rafael
Espinoza-Lecca, Eduardo
Contreras-Pulache, Hans
author_sort Moya-Salazar, Jeel
collection PubMed
description OBJECTIVE: Autosomal and sex chromosome aneuploidies are associated with multiple risk factors that determine their frequency and their social and health impact. We aimed to determine the clinical, phenotypic, and demographic characteristics of Peruvian children and neonates with autosomal and sex chromosome aneuploidies. MATERIALS AND METHODS: This was a retrospective study conducted on 510 pediatric patients. We conducted a cytogenetic analysis with G-bands by trypsin using Giemsa (GTG) banding, and the results were reported using the International System for Cytogenetics Nomenclature 2013 system. RESULTS: Of 399 children (mean age 2.1 ± 4 years), 84 (16.47%) had aneuploidies, with 86.90% being autosomal (73.81% trisomies). In autosomal aneuploidies, 67.85% (n = 57) of the children had Down syndrome where the most common cause was free trisomy 21 (52 cases, 61.91%), followed by Robertsonian translocation (4 cases, 4.76%). Edwards and Patau syndrome affected 4 (4.76%) and 1 (1.19%) neonate. The most frequent phenotypic characteristics in children with Down syndrome were Down syndrome-like facies (45.61%) and macroglossia (19.29%). Of sex chromosome aneuploidies, 6/7 were abnormalities of the X chromosome (mainly 45,X). Neonate’s age (19 ± 44.9 months), paternal age (49 ± 9 years), height (93.4 ± 176 cm), and gestational age (30 ± 15.4 weeks) were significantly correlated with the presence of sex chromosome and autosomal aneuploidies (P < .001; P = .025; and P = .001). CONCLUSIONS: Down syndrome and Turner’s syndrome were the most frequent aneuploidy and sex chromosome aneuploidy, respectively. In addition, some of the clinical, phenotypic, and demographic characteristics, such as newborn’s age, paternal age, gestational age, and height, were significantly correlated with the occurrence of aneuploidy. In this sense, these characteristics could be considered risk factors among this population.
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spelling pubmed-100810432023-04-08 Clinical, Phenotypic, and Demographic Characteristics of Peruvian Children and Neonates with Autosomal and Sex Chromosome Aneuploidies Moya-Salazar, Jeel Rojas-Zumaran, Víctor Vega-Vera, Rafael Espinoza-Lecca, Eduardo Contreras-Pulache, Hans Eurasian J Med Original Article OBJECTIVE: Autosomal and sex chromosome aneuploidies are associated with multiple risk factors that determine their frequency and their social and health impact. We aimed to determine the clinical, phenotypic, and demographic characteristics of Peruvian children and neonates with autosomal and sex chromosome aneuploidies. MATERIALS AND METHODS: This was a retrospective study conducted on 510 pediatric patients. We conducted a cytogenetic analysis with G-bands by trypsin using Giemsa (GTG) banding, and the results were reported using the International System for Cytogenetics Nomenclature 2013 system. RESULTS: Of 399 children (mean age 2.1 ± 4 years), 84 (16.47%) had aneuploidies, with 86.90% being autosomal (73.81% trisomies). In autosomal aneuploidies, 67.85% (n = 57) of the children had Down syndrome where the most common cause was free trisomy 21 (52 cases, 61.91%), followed by Robertsonian translocation (4 cases, 4.76%). Edwards and Patau syndrome affected 4 (4.76%) and 1 (1.19%) neonate. The most frequent phenotypic characteristics in children with Down syndrome were Down syndrome-like facies (45.61%) and macroglossia (19.29%). Of sex chromosome aneuploidies, 6/7 were abnormalities of the X chromosome (mainly 45,X). Neonate’s age (19 ± 44.9 months), paternal age (49 ± 9 years), height (93.4 ± 176 cm), and gestational age (30 ± 15.4 weeks) were significantly correlated with the presence of sex chromosome and autosomal aneuploidies (P < .001; P = .025; and P = .001). CONCLUSIONS: Down syndrome and Turner’s syndrome were the most frequent aneuploidy and sex chromosome aneuploidy, respectively. In addition, some of the clinical, phenotypic, and demographic characteristics, such as newborn’s age, paternal age, gestational age, and height, were significantly correlated with the occurrence of aneuploidy. In this sense, these characteristics could be considered risk factors among this population. Atatürk University School of Medicine 2023-02-01 /pmc/articles/PMC10081043/ /pubmed/36861858 http://dx.doi.org/10.5152/eurasianjmed.2023.22070 Text en 2023 authors https://creativecommons.org/licenses/by/4.0/ Content of this journal is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. (https://creativecommons.org/licenses/by/4.0/)
spellingShingle Original Article
Moya-Salazar, Jeel
Rojas-Zumaran, Víctor
Vega-Vera, Rafael
Espinoza-Lecca, Eduardo
Contreras-Pulache, Hans
Clinical, Phenotypic, and Demographic Characteristics of Peruvian Children and Neonates with Autosomal and Sex Chromosome Aneuploidies
title Clinical, Phenotypic, and Demographic Characteristics of Peruvian Children and Neonates with Autosomal and Sex Chromosome Aneuploidies
title_full Clinical, Phenotypic, and Demographic Characteristics of Peruvian Children and Neonates with Autosomal and Sex Chromosome Aneuploidies
title_fullStr Clinical, Phenotypic, and Demographic Characteristics of Peruvian Children and Neonates with Autosomal and Sex Chromosome Aneuploidies
title_full_unstemmed Clinical, Phenotypic, and Demographic Characteristics of Peruvian Children and Neonates with Autosomal and Sex Chromosome Aneuploidies
title_short Clinical, Phenotypic, and Demographic Characteristics of Peruvian Children and Neonates with Autosomal and Sex Chromosome Aneuploidies
title_sort clinical, phenotypic, and demographic characteristics of peruvian children and neonates with autosomal and sex chromosome aneuploidies
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10081043/
https://www.ncbi.nlm.nih.gov/pubmed/36861858
http://dx.doi.org/10.5152/eurasianjmed.2023.22070
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