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A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review
3q29 deletion syndrome is a rare disorder, causing a complex phenotype. Clinical features are variable and relatively non-specific. Our report aims to present an atypical, de novo deletion in chromosome band 3q29 in a preschool boy, first child of healthy non-consanguineous parents, presenting a par...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6628938/ https://www.ncbi.nlm.nih.gov/pubmed/31338352 http://dx.doi.org/10.3389/fped.2019.00270 |
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author | Chirita Emandi, Adela Dobrescu, Andreea Iulia Doros, Gabriela Hyon, Capucine Miclea, Diana Popoiu, Calin Puiu, Maria Arghirescu, Smaranda |
author_facet | Chirita Emandi, Adela Dobrescu, Andreea Iulia Doros, Gabriela Hyon, Capucine Miclea, Diana Popoiu, Calin Puiu, Maria Arghirescu, Smaranda |
author_sort | Chirita Emandi, Adela |
collection | PubMed |
description | 3q29 deletion syndrome is a rare disorder, causing a complex phenotype. Clinical features are variable and relatively non-specific. Our report aims to present an atypical, de novo deletion in chromosome band 3q29 in a preschool boy, first child of healthy non-consanguineous parents, presenting a particular phenotype (microcephaly, “full moon” face, flattened facial profile, large ears, auricular polyp, and dental dystrophies), motor and cognitive delay, characteristics of autism spectrum disorder and aggressive behavior. He also presented intrauterine growth restriction (birth weight 2,400 g) and a ventricular septal defect. SNP Array revealed a 962 kb copy number loss, on the chromosome 3q29 band (195519857–196482211), consistent with 3q29 microdeletion syndrome. FISH analysis using a RP11-252K11 probe confirmed the deletion in the proband, which was not present in the parents. Although the patient's deletion is relatively small, it partly overlaps the canonical 3q29 deletion (defined between TFRC and DLG1 gene) and extends upstream, associating a different facial phenotype compared to the classic 3q29 deletion, nonetheless showing a similar psychiatric disorder. This deletion is different from the canonical region, as it does not include the PAK2 and DLG1 genes, considered as candidates for causing intellectual disability. Thus, narrowing the genotype-phenotype correlation for the 3q29 band, FBX045 is suggested as a candidate gene for the neuropsychiatric phenotype. |
format | Online Article Text |
id | pubmed-6628938 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-66289382019-07-23 A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review Chirita Emandi, Adela Dobrescu, Andreea Iulia Doros, Gabriela Hyon, Capucine Miclea, Diana Popoiu, Calin Puiu, Maria Arghirescu, Smaranda Front Pediatr Pediatrics 3q29 deletion syndrome is a rare disorder, causing a complex phenotype. Clinical features are variable and relatively non-specific. Our report aims to present an atypical, de novo deletion in chromosome band 3q29 in a preschool boy, first child of healthy non-consanguineous parents, presenting a particular phenotype (microcephaly, “full moon” face, flattened facial profile, large ears, auricular polyp, and dental dystrophies), motor and cognitive delay, characteristics of autism spectrum disorder and aggressive behavior. He also presented intrauterine growth restriction (birth weight 2,400 g) and a ventricular septal defect. SNP Array revealed a 962 kb copy number loss, on the chromosome 3q29 band (195519857–196482211), consistent with 3q29 microdeletion syndrome. FISH analysis using a RP11-252K11 probe confirmed the deletion in the proband, which was not present in the parents. Although the patient's deletion is relatively small, it partly overlaps the canonical 3q29 deletion (defined between TFRC and DLG1 gene) and extends upstream, associating a different facial phenotype compared to the classic 3q29 deletion, nonetheless showing a similar psychiatric disorder. This deletion is different from the canonical region, as it does not include the PAK2 and DLG1 genes, considered as candidates for causing intellectual disability. Thus, narrowing the genotype-phenotype correlation for the 3q29 band, FBX045 is suggested as a candidate gene for the neuropsychiatric phenotype. Frontiers Media S.A. 2019-07-08 /pmc/articles/PMC6628938/ /pubmed/31338352 http://dx.doi.org/10.3389/fped.2019.00270 Text en Copyright © 2019 Chirita Emandi, Dobrescu, Doros, Hyon, Miclea, Popoiu, Puiu and Arghirescu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Chirita Emandi, Adela Dobrescu, Andreea Iulia Doros, Gabriela Hyon, Capucine Miclea, Diana Popoiu, Calin Puiu, Maria Arghirescu, Smaranda A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review |
title | A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review |
title_full | A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review |
title_fullStr | A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review |
title_full_unstemmed | A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review |
title_short | A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review |
title_sort | novel 3q29 deletion in association with developmental delay and heart malformation—case report with literature review |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6628938/ https://www.ncbi.nlm.nih.gov/pubmed/31338352 http://dx.doi.org/10.3389/fped.2019.00270 |
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