A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn

We present the case of a newborn with 17q23.1q23.2 microdeletion and additional homozygosity of 11p11.2q13.4. In the literature, 17q23.1q23.2 microdeletion syndrome is a novel syndrome reported in nine patients. Our patient is a full-term baby boy admitted to a neonatal intensive care unit for hypog...

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Autores principales: Barola, Sindhu, Parrill, Allison M, Mahmoudzadeh, Samaan, Bizargity, Peyman, Verma, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9012598/
https://www.ncbi.nlm.nih.gov/pubmed/35449653
http://dx.doi.org/10.7759/cureus.23290
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author Barola, Sindhu
Parrill, Allison M
Mahmoudzadeh, Samaan
Bizargity, Peyman
Verma, Rita
author_facet Barola, Sindhu
Parrill, Allison M
Mahmoudzadeh, Samaan
Bizargity, Peyman
Verma, Rita
author_sort Barola, Sindhu
collection PubMed
description We present the case of a newborn with 17q23.1q23.2 microdeletion and additional homozygosity of 11p11.2q13.4. In the literature, 17q23.1q23.2 microdeletion syndrome is a novel syndrome reported in nine patients. Our patient is a full-term baby boy admitted to a neonatal intensive care unit for hypoglycemia, respiratory distress, presumed sepsis, and thrombocytopenia. General appearance revealed microcephaly, micrognathia, ankyloglossia, small mouth, and high arch palate. The patient also presented with hypotonia, poor feeding, and poor weight gain in the first week of life followed by hypertonia and tremors from the second week of life. The phenotypic and clinical presentation lead to the genetic investigation of microarray which revealed 17q23.1q23.2 microdeletion and additional homozygosity of 11p11.2q13.4.
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spelling pubmed-90125982022-04-20 A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn Barola, Sindhu Parrill, Allison M Mahmoudzadeh, Samaan Bizargity, Peyman Verma, Rita Cureus Genetics We present the case of a newborn with 17q23.1q23.2 microdeletion and additional homozygosity of 11p11.2q13.4. In the literature, 17q23.1q23.2 microdeletion syndrome is a novel syndrome reported in nine patients. Our patient is a full-term baby boy admitted to a neonatal intensive care unit for hypoglycemia, respiratory distress, presumed sepsis, and thrombocytopenia. General appearance revealed microcephaly, micrognathia, ankyloglossia, small mouth, and high arch palate. The patient also presented with hypotonia, poor feeding, and poor weight gain in the first week of life followed by hypertonia and tremors from the second week of life. The phenotypic and clinical presentation lead to the genetic investigation of microarray which revealed 17q23.1q23.2 microdeletion and additional homozygosity of 11p11.2q13.4. Cureus 2022-03-18 /pmc/articles/PMC9012598/ /pubmed/35449653 http://dx.doi.org/10.7759/cureus.23290 Text en Copyright © 2022, Barola et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Barola, Sindhu
Parrill, Allison M
Mahmoudzadeh, Samaan
Bizargity, Peyman
Verma, Rita
A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn
title A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn
title_full A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn
title_fullStr A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn
title_full_unstemmed A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn
title_short A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn
title_sort rare case report of 17q23.1q23.2 microdeletion with homozygosity of 11p11.2q13.4 in a newborn
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9012598/
https://www.ncbi.nlm.nih.gov/pubmed/35449653
http://dx.doi.org/10.7759/cureus.23290
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