Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21–q22.1

Yamamoto, Toshiyuki; Dowa, Yuri; Ueda, Hideaki; Kawataki, Motoyoshi; Asou, Toshihide; Sasaki, Yuki; Harada, Naoki; Matsumoto, Naomichi; Matsuoka, Rumiko; Kurosawa, Kenji

doi:10.1002/ajmg.a.32204

Cited by 16 publications

(16 citation statements)

References 26 publications

(49 reference statements)

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“…The accurate molecular characterisation performed here might contribute to better define candidate regions for specific phenotypic signs, such as CHD. Yamamoto et al [1] compared their proband presenting CHD to a group of 13 previously described patients, with overlapping deletion encompassing the 16q21q22 tract. Nine patients out of 14 (64%) showed CHD, mainly related to endocardial cushion and outflow-tract defects.…”

Section: Discussionmentioning

confidence: 99%

“…Nine patients out of 14 (64%) showed CHD, mainly related to endocardial cushion and outflow-tract defects. By analysing the overlapping regions, the authors hypothesised that a candidate region for CHD could be identified between the middle part of 16q21 and the middle of 16q22 (from 62,000,000 to 68,000,000) [1]. The 16q21 band, with a very low gene density, is not the major candidate, as it represents a wide region of euchromatic copy number variations (CNV) without phenotypic effect [12].…”

Section: Discussionmentioning

confidence: 99%

“…Interstitial deletions of chromosome 16 long arm are rare rearrangements with around 20 patients described so far [1-7]. In spite of some specific phenotypes associated with the extension and localisation of the deleted regions, a critical region for this deletion syndrome is not clearly defined, as both 16q12.1q13 and 16q22 deletions are associated with similar phenotypic signs [8].…”

Section: Introductionmentioning

confidence: 99%

“…Congenital heart defects (CHD), mainly septal defects and anomalies of the outflow tract, have been described in 50–60% of the cases and, with a lower frequency, kidney malformations and anterior anus have also been reported. A candidate region for CHD has been proposed in the 16q22 region [1]. …”

Section: Introductionmentioning

confidence: 99%

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Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

et al. 2013

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BackgroundPartial monosomies of chromosome 16q are rare and overlapping effects from complex chromosomal rearrangements often hamper genotype-phenotype correlations for such imbalances. Here, we report the clinical features of an isolated partial monosomy 16q21q22.1 in a boy with a complex de novo rearrangement possibly resulting from a chromothripsis event.ResultsThe patient presented with low birth weight, microcephaly, developmental delay, facial dysmorphisms, short stature, dysmorphic ears and cardiopathy. Standard and molecular cytogenetics showed a complex rearrangement characterised by a pericentromeric inversion in one of chromosomes 12 and an inverted insertional translocation of the 12q14q21.1 region, from the rearranged chromosome 12, into the q21q22.1 tract of a chromosome 16. Array-CGH analysis unravelled a partial 16q21q22.1 monosomy, localised in the rearranged chromosome 16.ConclusionsThe comparison of the present case to other 16q21q22 monosomies contributed to narrow down the critical region for cardiac anomalies in the 16q22 deletion syndrome. However, more cases, well characterised both for phenotypic signs and genomic details, are needed to further restrict candidate regions for phenotypic signs in 16q deletions. The present case also provided evidence that a very complex rearrangement, possibly caused by a chromothripsis event, might be hidden behind a classical phenotype that is specific for a syndrome.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

et al. 2013

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“…There are only a few reports in medical literature with regard to patients with larger, cytogenetically visible deletions comprising this region, mostly because of an unbalanced complex chromosomal rearrangement. [19][20][21][22][23][24][25][26][27][28][29] In this study, we aimed to characterize the clinical and molecular features of four patients with submicroscopic interstitial 16q24.3 microdeletions ascertained by genome-wide array analysis and to determine the shortest region of overlap (SRO) to identify candidate genes responsible for their overlapping phenotype.…”

Section: Introductionmentioning

confidence: 99%

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

et al. 2009

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The clinical use of array comparative genomic hybridization in the evaluation of patients with multiple congenital anomalies and/or mental retardation has recently led to the discovery of a number of novel microdeletion and microduplication syndromes. We present four male patients with overlapping molecularly defined de novo microdeletions of 16q24.3. The clinical features observed in these patients include facial dysmorphisms comprising prominent forehead, large ears, smooth philtrum, pointed chin and wide mouth, variable cognitive impairment, autism spectrum disorder, structural anomalies of the brain, seizures and neonatal thrombocytopenia. Although deletions vary in size, the common region of overlap is only 90 kb and comprises two known genes, Ankyrin Repeat Domain 11 (ANKRD11) (MIM 611192) and Zinc Finger 778 (ZNF778), and is located approximately 10 kb distally to Cadherin 15 (CDH15) (MIM 114019). This region is not found as a copy number variation in controls. We propose that these patients represent a novel and distinctive microdeletion syndrome, characterized by autism spectrum disorder, variable cognitive impairment, facial dysmorphisms and brain abnormalities. We suggest that haploinsufficiency of ANKRD11 and/or ZNF778 contribute to this phenotype and speculate that further investigation of non-deletion patients who have features suggestive of this 16q24.3 microdeletion syndrome might uncover other mutations in one or both of these genes.

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Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2‐13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high‐density oligonucleotide array‐a recognizable syndrome

Chang

Wang

et al. 2010

American J of Med Genetics Pt A

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Interstitial deletion of 16q has emerged into a recognizable pattern of congenital malformation. We report on a 9-year-old boy with short stature, psychomotor retardation, high forehead, broad flat nasal bridge, hypertelorism, cup-shaped ears, short neck, and a normal karyotype. Using high-density oligonucleotide array chip (Affymetrix 6.0) to perform parental and proband samples concurrently on three chips and interpreted as a trio set, a de novo 3.2 Mb deletion from bands q12.2 to q13 on chromosome 16 (from 52.08 to 55.3 Mb) of paternal origin was identified. The deletion was confirmed by quantitative genomic PCR and the break points were defined by junction PCR. Our study demonstrated the power of high-density oligonucleotide array chip in identifying novel submicroscopic deletions that were not detectable using G-banding cytogenetic technology. Furthermore, our result narrowed down the critical region for craniofacial features in interstitial 16q11.2-q13 deletion syndrome. In patients who have high forehead, broad flat nasal bridge, hypertelorism, cup-shaped ears, short neck and short stature, high-density array should be included in initial work up.

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Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21–q22.1

Cited by 16 publications

References 26 publications

Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2‐13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high‐density oligonucleotide array‐a recognizable syndrome

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