Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch

Rauch, Anita; Hofbeck, Michael; Leipold, Georg; Klinge, J.; Trautmann, Udo; Kirsch, Michaela; Singer, H.; Pfeiffer, R. A.

doi:10.1002/(sici)1096-8628(19980724)78:4<322::aid-ajmg4>3.0.co;2-n

Cited by 64 publications

(19 citation statements)

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“…We found the percentage association between IAA Type B and 22q11.2 microdeletion to be high (10/15 cases, 66.7%). Postnatal series confirm the close association between Type B and 22q11.2 microdeletion4–6, whereas IAA Type A is rarely associated3. The remarkably different frequency of association with 22q11.2 deletion suggests that IAA Types A and B could be two separate pathogenetic entities.…”

Section: Discussionmentioning

confidence: 61%

“…Three anatomical types have been described according to the site of interruption: in Type A the interruption is distal to the left subclavian artery; in Type B it is between the left carotid and left subclavian arteries; and in Type C it is between the innominate artery and the left carotid artery1, 2. In postnatal studies, IAA Type A is rarely associated with 22q11.2 deletion3, whereas Type B is associated with this and other extracardiac features in 50–80% of cases4–6, often in the context of specific syndromes. Type C is by far the least common form of IAA, accounting for fewer than 5% of cases.…”

Section: Introductionmentioning

confidence: 99%

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Fetal interrupted aortic arch: 2D‐4D echocardiography, associations and outcome

Volpe¹,

Tuo

Robertis³

et al. 2010

Ultrasound in Obstet & Gyne

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Section: Discussionmentioning

confidence: 61%

Section: Introductionmentioning

confidence: 99%

Fetal interrupted aortic arch: 2D‐4D echocardiography, associations and outcome

Volpe¹,

Tuo

Robertis³

et al. 2010

Ultrasound in Obstet & Gyne

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“…Clinical details of these patients have been published elsewhere or are in preparation. [19][20][21][22][23] While the latter patients were recruited only for the characteristic heart phenotype, 77 further patients without characteristic ctCHDs were analysed because clinical investigations at the genetics clinic requested due to developmental delay and/or malformations (mental retardation/multiple congenital anomalies; MR/MCA) of unknown origin revealed features consistent with the 22q11.2 deletion spectrum. Inclusion criteria for the latter were either developmental delay, short stature, or frequent infections in addition to at least two minor facial anomalies compatible with the DGS/VCFS spectrum, or the presence of at least one minor dysmorphism in addition to one of the following: CHD, urogenital anomaly, cleft palate, choanal atresia, hypocalcaemia.…”

Section: Patientsmentioning

confidence: 99%

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2

Rauch¹,

Zink²,

Zweier³

et al. 2005

Journal of Medical Genetics

123

153

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Introduction: Clinical variability associated with the common 22q11.2 microdeletion is well known, and has led to a broad application of FISH diagnostics with probes for loci TUPLE1 or D22S75 (N25), although, rarely reported atypical deletions associated with the same phenotypic spectrum would not be discovered by these probes. As most types of 22q11.2 deletions occur between low copy repeats within the region (LCR22), we assumed that atypical deletions should be more common than has been reported. To address this question and the possibility of a deletion size related genotype-phenotype correlation, we systematically assessed the frequency of typical and atypical 22q11.2 deletions in a large cohort of patients. Methods: We used a set of 10 fluorescent in situ hybridisation (FISH) DNA probes, capable of detecting all reported and hypothetical deletions between the LCR22, and analysed 350 patients. Deletion sizes in atypical deletions were established by use of further FISH probes. Frequency of certain atypical deletions was analysed in controls by FISH and quantitative PCR. Results: Patients with conotruncal heart defects (ctCHD) and with typical VCFS phenotype showed the common 3 Mb or nested 1.5 Mb deletions (in 18.5% and 78.6%, respectively), but no atypical deletion, while 5% (3/63) of patients with a mildly suggestive, atypical phenotype showed atypical distal deletions, which were not detected in patients with mental retardation of unknown origin or in healthy controls. Discussion: These statistically significant differences demonstrate that atypical distal 22q11.2 deletions are very uncommon in patients with ctCHDs, while atypical congenital heart defects and mild dysmorphism are recognisable feature of atypical distal deletions. Further phenotype-genotype analysis disclosed association of significant developmental delay with the distal part of the common deletion region, and choanal atresia and atypical CHDs with the adjacent distal deletion region.

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“…Interrupted aortic arch (IAA) is a severe congenital heart defect that is divided into three types (A, B, and C) based on the absence of the luminal continuity between the ascending and descending aorta 1 . IAA type B is often found with DiGeorge syndrome (DGS) and is one of the most frequent phenotypes of chromosome 22q11.2 deletion 2 . IAA type C is also considered to have common genetic mechanisms with IAA type B 3 .…”

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confidence: 99%

Interrupted aortic arch type C associated with DiGeorge syndrome in 22q11.2 deletion: first case detected in Japan

Fujii¹,

Ueno²,

Kurano

et al. 2005

Pediatrics International

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Key wordsautopsy case, DiGeorge syndrome, interrupted aortic arch type C, 22q11.2 deletion.Interrupted aortic arch (IAA) is a severe congenital heart defect that is divided into three types (A, B, and C) based on the absence of the luminal continuity between the ascending and descending aorta. 1 IAA type B is often found with DiGeorge syndrome (DGS) and is one of the most frequent phenotypes of chromosome 22q11.2 deletion. 2 IAA type C is also considered to have common genetic mechanisms with IAA type B. 3 However, 22q11.2 microdeletion has been revealed in only two patients with IAA type C previously. 3,4 Especially in Japan, the IAA type C patient itself has not been reported as far as we know. Here we describe on the first case of IAA type C detected in Japan who is associated with DGS in 22q11.2 hemizygosity. Case reportThe patient was a 28-day-old Japanese male infant who was born by spontaneous vaginal delivery at 40 weeks of gestation. The pregnancy was uncomplicated and the parents were healthy. There was no family history of consanguinity. He had two older healthy siblings. The parents had noted that his both lower extremities were too cold since birth. He also had severe feeding difficulties with dyspnea and failure to thrive. After a vomiting episode on day 28, he could no longer drink milk and developed substernal retraction and tachypnea. When he came to our hospital, his general condition was extremely poor with forced expiratory efforts and cyanosis. No peripheral pulse was detectable. The chest X-ray film showed an enlarged cardiac shadow (CTR = 71%). We started lipo-prostaglandin E l infusion and attempted cardiopulmonary resuscitation with room air. He was already in decompensated shock and died 2 h after admission. Autopsy was performed within 3 h of death. The following cardiac malformations were confirmed. The patent ductus arteriosus connected the main pulmonary artery and supplied the descending aorta. The left common carotid artery and the left subclavian artery arose from the upper descending aorta. The descending aorta appeared to terminate immediately after the origin of the left common carotid artery (Figs 1, 2). A ventricular septal defect was observed (Fig. 2). The thymus was not detectable. No other malformations were detected.On postmortem blood analysis, parathyroid hormone was not detectable. We could not use the blood for the sample of FISH analysis because of the poor vioabilities of postmortem cells. Therefore, the cytogenic analysis was done by in situ hybridization of metaphase chromosomes obtained from a sample of heart tissue at autopsy, and a deletion in a segment of 22q11.2 was detected (Fig. 3). Band 22q11.2 heterozygosity was consistently found in all 50 cells examined. DiscussionOn the fourth to the sixth week of gestation, the cardiac neural crest cells migrate from the hindbrain region to the pharyngeal arches. 5 Recent evidence revealed that these migrated cells were coordinated for proper remodeling of the aortic arch by the several signals coded at human chromoso...

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Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch

Cited by 64 publications

References 54 publications

Fetal interrupted aortic arch: 2D‐4D echocardiography, associations and outcome

Fetal interrupted aortic arch: 2D‐4D echocardiography, associations and outcome

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2

Interrupted aortic arch type C associated with DiGeorge syndrome in 22q11.2 deletion: first case detected in Japan

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