A novel atypical 22q11.2 distal deletion in father and son

García‐Miñaúr, Sixto; Fantes, Judith A.; Murray, Ronald S.; Porteous, Mary; Strain, Lisa; Burns, Julie E.; Stephen, Johnson; Warner, Jon

doi:10.1136/jmg.39.10.e62

Cited by 47 publications

(57 citation statements)

References 26 publications

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“…For instance, several cases of psychiatric disorders and congenital heart disease, including tetralogy of Fallot, are observed in patients with atypical deletions not encompassing COMT or TBX1. 17,32 Features overlapping with 22q11DS have also been observed with 22q11 distal deletions. 10 One gene implicated in the craniofacial, neurodevelopmental and congenital heart malformations associated with 22q11 distal deletions is mitogen-Activated Protein Kinase 1 (MAPK1).…”

Section: Discussionmentioning

confidence: 80%

Implications of COMT long-range interactions on the phenotypic variability of 22q11.2 deletion syndrome

Zeitz

Lerner

et al. 2013

Nucleus

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Section: Discussionmentioning

confidence: 80%

Implications of COMT long-range interactions on the phenotypic variability of 22q11.2 deletion syndrome

Zeitz

Lerner

et al. 2013

Nucleus

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“…In this report, we describe a patient with atypical and distal 22q11.2 deletion and congenital heart disease (truncus arteriosus type 2) and compare the molecular data and clinical phenotype with those previously reported on this genomic region [Kurahashi et al, 1996[Kurahashi et al, , 1997Rauch et al, 1999Rauch et al, , 2005Saitta et al, 1999;Garcia-Minaur et al, 2002;D'Angelo et al, 2007;Mikhail et al, 2007;BenShachar et al, 2008;Rodningen et al, 2008;Xu et al, 2008;Bruce et al, 2009;Fernandez et al, 2009;LafayCousin et al, 2009;Ogilvie et al, 2009].…”

Section: Discussionmentioning

confidence: 97%

“…3 and tables 1 , 2 ) [Rauch et al, 1999[Rauch et al, , 2005Saitta et al, 1999;Mikhail et al, 2007;Ben-Shachar et al, 2008;Rodningen et al, 2008;Xu et al, 2008;Bruce et al, 2009;Lafay-Cousin et al, 2009] and those with an 'atypical deletion' in the more centromeric region (interval IV-V, fig. 3 and tables 3 , 4 ) [Kurahashi et al, 1996[Kurahashi et al, , 1997Garcia-Minaur et al, 2002;Rauch et al, 2005;D'Angelo et al, 2007;Fernandez et al, 2009]. The case reported by Ogilvie et al [2009] is very similar to the present patient, with an 'atypical' and 'distal' 22q11.2 deletion, with the same breakpoints, but it is difficult to do a comparison between the facial phenotypes because these clinical aspects have not been described in detail by Ogilvie et al We did not consider in our review the 5 patients reported by Jackson et al [2007], with germline 22q11.2 deletion, because these children had a more distal deletion including the INI1 gene and predisposing to development of malignant rhabdoid tumors.…”

Section: Discussionmentioning

confidence: 99%

“…So far, only a small number of 'atypical deletions' [Kurahashi et al, 1996[Kurahashi et al, , 1997Garcia-Minaur et al, 2002;Rauch et al, 2005;D'Angelo et al, 2007;Fernandez et al, 2009] and 'distal deletions' [Rauch et al, 1999[Rauch et al, , 2005Saitta et al, 1999;Mikhail et al, 2007;Ben-Shachar et al, 2008;Rodningen et al, 2008;Xu et al, 2008;Bruce et al, 2009;Lafay-Cousin et al, 2009] were discovered. Here, we describe the case of a 5-year-old girl with an atypical and distal 22q11.2 deletion slightly overlapping with the 3-Mb recurrent deletion and compare the clinical features of our case with those reported in the literature.…”

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confidence: 99%

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22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review

et al. 2011

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22q11.2 deletion syndrome is mainly characterized by conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial appearance. The etiology in the majority of patients is a 3-Mb recurrent deletion in region 22q11.2. Nevertheless, recently some cases of infrequent deletions with various sizes have been reported with a different phenotype. We report on a patient with congenital heart disease (truncus arteriosus type 2) in whom a de novo 1.3-Mb 22q11.2 deletion was detected by array comparative genomic hybridization. The deletion described corresponds to an atypical and distal deletion which spans low copy repeat (LCR) 4 and is associated with breakpoint sites that do not correspond to known LCRs of 22q11.2. We examine the clinical phenotype of our case and compare our findings with those published in the literature. The most prevalent clinical features in this type of deletion are a history of prematurity, pre-natal and post-natal growth retardation, slight facial dysmorphic features, microcephaly and developmental delay, with a speech defect in particular. These are clearly different from those found in the classic 22q11.2 deletion syndrome, and we believe that the main differential diagnosis should be with Silver-Russel syndrome. In our case we observe the cardiac phenotype with truncus arteriosus communis usually seen in the classic 22q11.2 deletion syndrome, and so far associated with the TBX1 gene. Significantly, however, TBX1 is not included in our patient’s deletion. The possible roles of a position effect or other genes are discussed.

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“…Flanking clones RP11-316L10 and RP11-36N5 showed normal copy number, indicating an atypical duplication within the distal portion of the DGS/VCFS region. Characterization of the size of the duplication was done by FISH mapping using fosmid clones G248P83456F11 and G248P86496D2 between LCR22-3a and LCR22-3b revealed three signals for each probe, indicating the presence of an atypical ϳ1-Mb microduplication between LCR 22-3a and LCR 22-4 that likely represents the reciprocal recombination product of the atypical deletion reported by Garcia-Miñaur et al 20 The father, who is reportedly phenotypically normal, was found to carry the same microduplication by CMA (referred to as Patient 6F).…”

Section: Molecular Characterization and Phenotypes Of Patients With Umentioning

confidence: 99%

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

Berg

Yonath

et al. 2008

Genetics in Medicine

173

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Purpose: Genomic rearrangements of chromosome 22q11.2, including the microdeletion associated with DiGeorge/velocardiofacial syndrome, are mediated by nonallelic homologous recombination between region-specific low-copy repeats. To date, only a small number of patients with 22q11.2 microduplication have been identified. Methods:We report the identification by array-comparative genomic hybridization of 14 individuals from eight families who harbor microduplications within the 22q11.2 region. Results: We have now observed a variety of microduplications, including the typical common ϳ3-Mb microduplication, ϳ1.5-Mb nested duplication, and smaller microduplications within and distal to the DiGeorge/velocardiofacial syndrome region, consistent with nonallelic homologous recombination using distinct low-copy repeats in the 22q11.2 DiGeorge/velocardiofacial syndrome region. These microduplications likely represent the predicted reciprocal rearrangements to the microdeletions characterized in the 22q11.2 region. The phenotypes seen in these individuals are generally mild and highly variable; familial transmission is frequently observed. Conclusions: These findings highlight the unbiased ability of array-comparative genomic hybridization to identify genomic imbalances and further define the molecular etiology and clinical phenotypes seen in microduplication 22q11.2 syndrome. Our findings also further support that the 22q11.2 region is highly dynamic with frequent rearrangements using alternative low-copy repeats as recombination substrates. Genet Med 2008:10(4):267-277.

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A novel atypical 22q11.2 distal deletion in father and son

Cited by 47 publications

References 26 publications

Implications of COMT long-range interactions on the phenotypic variability of 22q11.2 deletion syndrome

Implications of COMT long-range interactions on the phenotypic variability of 22q11.2 deletion syndrome

22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

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