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De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay
Cytogenomic microarray (CMA) methodologies, including array comparative genomic hybridization (aCGH) and single-nucleotide polymorphism-detecting arrays (SNP-array), are recommended as the first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506918/ https://www.ncbi.nlm.nih.gov/pubmed/31106228 http://dx.doi.org/10.1177/2329048X19844920 |
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author | Keselman, Dennis Singh, Ram Cohen, Ninette Fefer, Zipora |
author_facet | Keselman, Dennis Singh, Ram Cohen, Ninette Fefer, Zipora |
author_sort | Keselman, Dennis |
collection | PubMed |
description | Cytogenomic microarray (CMA) methodologies, including array comparative genomic hybridization (aCGH) and single-nucleotide polymorphism-detecting arrays (SNP-array), are recommended as the first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple congenital anomalies. The authors report on a child with global developmental delay (GDD) and a de novo interstitial 7.0 Mb deletion of 9q21.33q22.31 detected by aCGH. The patient that the authors report here is noteworthy in that she presented with GDD and her interstitial deletion is not inclusive of the 9q22.32 locus that includes the PTCH1 gene, which is implicated in Gorlin syndrome, or basal cell nevus syndrome (BCNS), has not been previously reported among patients with a similar or smaller size of the deletion in this locus suggesting that the genomic contents in the identified deletion on 9q21.33q22.31 is critical for the phenotype. |
format | Online Article Text |
id | pubmed-6506918 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-65069182019-05-17 De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay Keselman, Dennis Singh, Ram Cohen, Ninette Fefer, Zipora Child Neurol Open Case Report Cytogenomic microarray (CMA) methodologies, including array comparative genomic hybridization (aCGH) and single-nucleotide polymorphism-detecting arrays (SNP-array), are recommended as the first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple congenital anomalies. The authors report on a child with global developmental delay (GDD) and a de novo interstitial 7.0 Mb deletion of 9q21.33q22.31 detected by aCGH. The patient that the authors report here is noteworthy in that she presented with GDD and her interstitial deletion is not inclusive of the 9q22.32 locus that includes the PTCH1 gene, which is implicated in Gorlin syndrome, or basal cell nevus syndrome (BCNS), has not been previously reported among patients with a similar or smaller size of the deletion in this locus suggesting that the genomic contents in the identified deletion on 9q21.33q22.31 is critical for the phenotype. SAGE Publications 2019-05-07 /pmc/articles/PMC6506918/ /pubmed/31106228 http://dx.doi.org/10.1177/2329048X19844920 Text en © The Author(s) 2019 http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Case Report Keselman, Dennis Singh, Ram Cohen, Ninette Fefer, Zipora De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay |
title | De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global
Developmental Delay |
title_full | De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global
Developmental Delay |
title_fullStr | De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global
Developmental Delay |
title_full_unstemmed | De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global
Developmental Delay |
title_short | De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global
Developmental Delay |
title_sort | de novo interstitial deletion of 9q in a pediatric patient with global
developmental delay |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506918/ https://www.ncbi.nlm.nih.gov/pubmed/31106228 http://dx.doi.org/10.1177/2329048X19844920 |
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