A 4q21‐q22 deletion in a girl with severe growth retardation

doi:10.1034/j.1399-0004.2002.610311.x

Cited by 16 publications

(6 citation statements)

References 26 publications

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“…A de novo ∼3.1-Mb deletion at 4q21.21q21.22 identified in patient 23 overlaps CNVs reported in the literature (Harada et al 2002; Friedman et al 2006; Bonnet et al 2010; Lipska et al 2011). Bonnet et al (2010) defined a 1.37-Mb critical region containing five genes, PRKG2 (MIM 601591), RASGEF1B (MIM 614532), HNRNPD (MIM 601324), HNRPDL (MIM 607137), and ENOPH1 , and proposed that PRKG2 and RASGEF1B are the best candidate genes responsible for the 4q21 deletion syndrome (MIM 613509) characterized by severe ID, lack of speech, hypotonia, significant growth restriction, and distinctive facial features.…”

Section: Discussionsupporting

confidence: 62%

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Bartnik¹,

Nowakowska²,

Derwińska³

et al. 2013

J Appl Genetics

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We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional neurodevelopmental abnormalities, and/or congenital malformations. In 69 patients, we identified 84 non-polymorphic copy-number variants, among which 41 are known to be clinically relevant, including two recently described deletions, 4q21.21q21.22 and 17q24.2. Chromosomal microarray analysis revealed also 15 potentially pathogenic changes, including three rare deletions, 5q35.3, 10q21.3, and 13q12.11. Additionally, we found 28 copy-number variants of unknown clinical significance. Our results further support the notion that copy-number variants significantly contribute to the genetic etiology of DD/ID and emphasize the efficacy of the detection of novel candidate genes for neurodevelopmental disorders by whole-genome array CGH.Electronic supplementary materialThe online version of this article (doi:10.1007/s13353-013-0181-x) contains supplementary material, which is available to authorized users.

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Section: Discussionsupporting

confidence: 62%

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Bartnik¹,

Nowakowska²,

Derwińska³

et al. 2013

J Appl Genetics

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“…Most previously reported 4q deletions are relatively larger than the 4q21.3 deletions in case 1 and case 2 [Fig. 2 and Harada et al, 2002; Velinov et al, 2005; Dobyns et al, 2008]. The patients with the 4q21.3 deletions shown in Figure 2 have a small region of overlap of approximately 4.0 Mb.…”

Section: Resultsmentioning

confidence: 80%

“…Figure 2 and Table I show the deletion region and clinical features in case 1 and case 2 and five previously reported cases with the 4q21 deletion [Harada et al, 2002; Velinov et al, 2005; Dobyns et al, 2008; Bonnet et al, 2010]. Most previously reported 4q deletions are relatively larger than the 4q21.3 deletions in case 1 and case 2 [Fig.…”

Section: Resultsmentioning

confidence: 95%

“…Genes used for quantitative genomic PCR are indicated in bold types. Overview of the deletions in Patient 1 and Patient 2 described in this report and five previously reported deletions involving the 4q21.3 region [JP patient, Harada et al, 2002; Patients LRA04-022a2 and LR07-256, Dobyns et al, 2008; Patients 1 and 8, Bonnet et. al., 2010].…”

Section: Figurementioning

confidence: 86%

“…Interstitial deletions of the long arm of chromosome 4 have been reported in a number of individuals with variable clinical phenotypes [Mitchell et al, 1981; Beall et al, 1988; Abuelo et al, 1988; Fagan and Gill, 1989; Nowaczyk et al, 1997; Harada et al, 2002; Velinov et al, 2005; Jacquemont et al, 2006; Dobyns et al, 2008]. Patients with deletions involving 4q21 and 4q22 show several characteristic features such as facial dysmorphism, hypotonia, and small hands with short fingers associated with mild-severe growth and neurodevelopmental delays including ID.…”

Section: Introductionmentioning

confidence: 99%

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Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature

Dukes-Rimsky

Guzauskas

Holden

et al. 2011

American J of Med Genetics Pt A

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Chromosomal imbalances are a major cause of intellectual disability (ID) and multiple congenital anomalies. We have clinically and molecularly characterized two patients with chromosome translocations and ID. Using whole genome array CGH analysis, we identified a microdeletion involving 4q21.3, unrelated to the translocations in both patients. We confirmed the 4q21.3 microdeletions using fluorescence in situ hybridization and quantitative genomic PCR. The corresponding deletion boundaries in the patients were further mapped and compared to previously reported 4q21 deletions and the associated clinical features. We determined a common region of deletion overlap that appears unique to ID, short stature, hypotonia, and dysmorphic facial features.

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Molecular characterization of two patients with de novo interstitial deletions in 4q22–q24

Hilhorst‐Hofstee

Tümer

Born

et al. 2009

American J of Med Genetics Pt A

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A 4q21‐q22 deletion in a girl with severe growth retardation

Cited by 16 publications

References 26 publications

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature

Molecular characterization of two patients with de novo interstitial deletions in 4q22–q24

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