De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay

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...

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Main Authors: Dennis Keselman BA, Ram Singh PhD, Ninette Cohen PhD, Zipora Fefer MD
Format: Article
Language:English
Published: SAGE Publishing 2019-05-01
Series:Child Neurology Open
Online Access:https://doi.org/10.1177/2329048X19844920
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spelling doaj-d8f301252829457ba3fc692f3aebf9e72020-11-25T03:03:22ZengSAGE PublishingChild Neurology Open2329-048X2019-05-01610.1177/2329048X19844920De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental DelayDennis Keselman BA0Ram Singh PhD1Ninette Cohen PhD2Zipora Fefer MD3 Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, USA Sema4, a Mount Sinai Venture, Stamford, CT, USA Division of Cytogenetics and Molecular Pathology, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Northwell Health Laboratories, Lake Success, NY, USA Department of Pediatric Neurology, Cohen Children’s Medical Center at Northwell Health, Donald and Barbara Zucker School of Medicine at Hofstra/NorthwellCytogenomic 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.https://doi.org/10.1177/2329048X19844920
collection DOAJ
language English
format Article
sources DOAJ
author Dennis Keselman BA
Ram Singh PhD
Ninette Cohen PhD
Zipora Fefer MD
spellingShingle Dennis Keselman BA
Ram Singh PhD
Ninette Cohen PhD
Zipora Fefer MD
De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay
Child Neurology Open
author_facet Dennis Keselman BA
Ram Singh PhD
Ninette Cohen PhD
Zipora Fefer MD
author_sort Dennis Keselman BA
title 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_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_sort de novo interstitial deletion of 9q in a pediatric patient with global developmental delay
publisher SAGE Publishing
series Child Neurology Open
issn 2329-048X
publishDate 2019-05-01
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.
url https://doi.org/10.1177/2329048X19844920
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AT ramsinghphd denovointerstitialdeletionof9qinapediatricpatientwithglobaldevelopmentaldelay
AT ninettecohenphd denovointerstitialdeletionof9qinapediatricpatientwithglobaldevelopmentaldelay
AT ziporafefermd denovointerstitialdeletionof9qinapediatricpatientwithglobaldevelopmentaldelay
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