Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2019 May 7:6:2329048X19844920.
doi: 10.1177/2329048X19844920. eCollection 2019.

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

Dennis Keselman  1 , Ram Singh  2   3 , Ninette Cohen  4 , Zipora Fefer  5
Affiliations
Case Reports

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

Dennis Keselman et al. Child Neurol Open. .

Abstract

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.

Keywords: behavior; children; developmental delay; developmental disability; genetics; infant; intellectual disability; mutation; neonate; pediatric.

PubMed Disclaimer

Conflict of interest statement

Declaration of Conflicting Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
(A) Location of the deletion within banding region 9q21.33q22.31 and (B) close view shows a 7.0-Mb deletion overlaid on the raw log2 probe plot. Chromosomal microarray analysis was performed using array comparative genomic hybridization (aCGH) with Agilent’s SurePrint G3 4x180 k CGH+ single-nucleotide polymorphism (SNP). Array CGH data were analyzed using Cytogenomics (v.3.0.2.11, Agilent) and Bench LAB CNV (v5.1.1, Cartagenia).
Figure 2.
Figure 2.
The size, extent, and genomic content of the deletion in this patient. Genomic coordinates from array comparative genomic hybridization (aCGH, chr9:87,331,806-94,336,693 [hg19]) were analyzed on UCSC genome browser. UCSC genome browser tracks (hg19) showing (A) all genes (RefSeq) (B) OMIM genes (green bars) (C) Database of Genomic Variants (DGV).
Figure 3.
Figure 3.
The identified deletion was confirmed by fluorescence in situ hybridization (FISH) using a bacterial artificial chromosome (BAC) probe targeted to the 9q21.33 region (RP11- 91M3, Empire Genomics) and a control probe specific to the subtelomeric region of chromosome 9q (TelVysion 9q, D9S325, Abbott Molecular). Loss of the green fluorescent hybridization signal confirmed the deletion in the nuclei. Chromosomes were stained with DAPI.
Figure 4.
Figure 4.
Parental analysis by array comparative genomic hybridization (aCGH) showed that neither parent was a carrier of this aberration, indicating that the deletion occurred de novo in the proband.
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. Shevell M, Ashwal S, Donley D, et al. Practice parameter: evaluation of the child with global developmental delay: report of the quality standards subcommittee of the american academy of neurology and the practice committee of the child neurology society. Neurology. 2003;60(3):367–380. - PubMed
    1. (CNS). AAoNAaCNS. Evaluation of the Child with Global Developmental Delay Guideline Summary for Clinicians 2013. Accessed April, 2018.
    1. Thomaidis L, Zantopoulos GZ, Fouzas S, Mantagou L, Bakoula C, Konstantopoulos A. Predictors of severity and outcome of global developmental delay without definitive etiologic yield: a prospective observational study. BMC Pediatr. 2014;14:40. - PMC - PubMed
    1. Shevell MI, Majnemer A, Rosenbaum P, Abrahamowicz M. Etiologic yield of subspecialists’ evaluation of young children with global developmental delay. J Pediatr. 2000;136(5):593–598. - PubMed
    1. Scott SA, Cohen N, Brandt T, Toruner G, Desnick RJ, Edelmann L. Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization. Genet Med. 2010;12(2):85–92. - PubMed

Publication types

LinkOut - more resources