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Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report

Trisomy 16q is a rare disorder with severe abnormalities, which always leads to early postnatal mortality. It usually results from a parental translocation, exhibiting 16q duplication associated with another chromosomal deletion. The present study reports on the clinical presentation and molecular c...

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Autores principales: Yue, Fagui, Jiang, Yuting, Pan, Yuan, Li, Leilei, Li, Linlin, Liu, Ruizhi, Wang, Ruixue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6614715/
https://www.ncbi.nlm.nih.gov/pubmed/31363371
http://dx.doi.org/10.3892/etm.2019.7695
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author Yue, Fagui
Jiang, Yuting
Pan, Yuan
Li, Leilei
Li, Linlin
Liu, Ruizhi
Wang, Ruixue
author_facet Yue, Fagui
Jiang, Yuting
Pan, Yuan
Li, Leilei
Li, Linlin
Liu, Ruizhi
Wang, Ruixue
author_sort Yue, Fagui
collection PubMed
description Trisomy 16q is a rare disorder with severe abnormalities, which always leads to early postnatal mortality. It usually results from a parental translocation, exhibiting 16q duplication associated with another chromosomal deletion. The present study reports on the clinical presentation and molecular cytogenetic results of a small-for-gestational-age infant, consisting of partial trisomy 16q21→qter and monosomy 2p25.3→pter. The proband presented with moderately low birthweight, small anterior fontanelles, prominent forehead, low hairline, telecanthus, flat nasal bridge, choanal atresia, clinodactyly of the fifth fingers, urogenital anomalies, congenital muscular torticollis and congenital laryngomalacia. The last two traits have not previously been reported in any trisomy 16q and monosomy 2p cases. The proband was trisomic for the 16q21→qter chromosomal region with the karyotype 46,XY,der(2)t(2;16)(p25;q21)pat. The chromosomal anomaly was the result of unbalanced segregation of a paternal balanced translocation, 46,XY,t(2;16)(p25;q21). In this case, molecular cytogenetic analysis had a critical role in delineating the proband's clinical phenotype. Although this patient had a 16q21→qter duplication and a 2p25.3→pter deletion, the latter may have had mild phenotypic effects when associated with trisomy 16q. The literature was also reviewed, focusing on cases with the same breakpoints, localizations and clinical features reported in recent years.
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spelling pubmed-66147152019-07-30 Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report Yue, Fagui Jiang, Yuting Pan, Yuan Li, Leilei Li, Linlin Liu, Ruizhi Wang, Ruixue Exp Ther Med Articles Trisomy 16q is a rare disorder with severe abnormalities, which always leads to early postnatal mortality. It usually results from a parental translocation, exhibiting 16q duplication associated with another chromosomal deletion. The present study reports on the clinical presentation and molecular cytogenetic results of a small-for-gestational-age infant, consisting of partial trisomy 16q21→qter and monosomy 2p25.3→pter. The proband presented with moderately low birthweight, small anterior fontanelles, prominent forehead, low hairline, telecanthus, flat nasal bridge, choanal atresia, clinodactyly of the fifth fingers, urogenital anomalies, congenital muscular torticollis and congenital laryngomalacia. The last two traits have not previously been reported in any trisomy 16q and monosomy 2p cases. The proband was trisomic for the 16q21→qter chromosomal region with the karyotype 46,XY,der(2)t(2;16)(p25;q21)pat. The chromosomal anomaly was the result of unbalanced segregation of a paternal balanced translocation, 46,XY,t(2;16)(p25;q21). In this case, molecular cytogenetic analysis had a critical role in delineating the proband's clinical phenotype. Although this patient had a 16q21→qter duplication and a 2p25.3→pter deletion, the latter may have had mild phenotypic effects when associated with trisomy 16q. The literature was also reviewed, focusing on cases with the same breakpoints, localizations and clinical features reported in recent years. D.A. Spandidos 2019-08 2019-06-20 /pmc/articles/PMC6614715/ /pubmed/31363371 http://dx.doi.org/10.3892/etm.2019.7695 Text en Copyright: © Yue et al. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Articles
Yue, Fagui
Jiang, Yuting
Pan, Yuan
Li, Leilei
Li, Linlin
Liu, Ruizhi
Wang, Ruixue
Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report
title Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report
title_full Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report
title_fullStr Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report
title_full_unstemmed Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report
title_short Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report
title_sort molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: a case report
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6614715/
https://www.ncbi.nlm.nih.gov/pubmed/31363371
http://dx.doi.org/10.3892/etm.2019.7695
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