Esophageal and duodenal atresia in a girl with a 12q24.3‐qter deletion

Doray, Bérénice; Baudin, François; Girard-Lemaire, Françoise; Schluth, Caroline; Flori, Elisabeth

doi:10.1034/j.1399-0004.2002.610613.x

Cited by 12 publications

(5 citation statements)

References 13 publications

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“…In addition, these pathogenic CNVs may exert a potential effect on health. We also reviewed published reports examining DO and chromosomal anomalies 11,24‐28 . (Table 4) Genetic etiologies associated with DO are not limited to trisomy 21 although it remains the leading diagnosis.…”

Section: Discussionmentioning

confidence: 99%

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Microarray analysis in fetuses with duodenal obstruction: It is not just trisomy 21

Zhang

Lei

et al. 2021

Prenatal Diagnosis

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Objective To explore the copy number variants (CNVs) in case of fetal duodenal obstruction (DO) and assess the associated prenatal findings and postnatal outcomes. Materials and methods This retrospective study reviewed 51 fetuses with DO and the findings of chromosomal microarray analysis (CMA) used as a first‐tier test in our institution between January 2014 and May 2019. Results The frequency of pathogenic aberrations in fetuses with DO was 15.7% (8/51), including 9.8% (5/51) pathogenic CNVs. Three fetuses with isolated DO each had a deletion on chromosome 13q, one fetus had duplication at 1q43q44, and one had microduplication at 17q12. No significant differences in pathogenic CNVs were observed between isolated DO and DO plus additional anomalies (4/42, 9.5% vs 1/9, 11.1%, P = .89). Of the 51 fetuses with DO, 11 pregnancies were terminated, and eight fetuses had chromosomal abnormalities; one pregnancy ended with intrauterine death, and there were 39 live births. Neonatal outcomes were available for 31 fetuses, and no neonatal deaths occurred after surgery. Conclusions Our cohort study demonstrated the value of CMA in fetuses with DO, suggesting that CNVs may underly genetic etiologies that should be considered in the diagnostic evaluation of DO. We think CMA should be recommended in case of DO.

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Section: Discussionmentioning

confidence: 99%

“…We also reviewed published reports examining DO and chromosomal anomalies. 11,[24][25][26][27][28] ( 31 and an association with HD is well known. 32 One study has suggested abnormalities in neural crest cell migration, in conjunction with vascular disruption, as possible pathogenic mechanisms of duodenal atresia.…”

Section: Discussionmentioning

confidence: 99%

Microarray analysis in fetuses with duodenal obstruction: It is not just trisomy 21

Zhang

Lei

et al. 2021

Prenatal Diagnosis

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“…Other associated anomalies have been identified by Al-Salem [9], Lambrecht and Kluth [10], Annerén et al [11], and Sencan et al [12]. As momentum has increased for a genetic cause for duodenal atresia, Doray et al [13] and Gonzalez et al [14] have mapped specific cases of duodenal atresia to particular genes. The following is our proposed genetic mechanism for duodenal atresia.…”

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confidence: 93%

Fibroblast growth factor-10 serves a regulatory role in duodenal development

Kanard

Fairbanks

Langhe

et al. 2005

Journal of Pediatric Surgery

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“…In addition, a small number of oesophageal atresia patients with other chromosomal anomalies, including chromosomes 12 and 17 (Marsh et al, 2000;Doray et al, 2002), have been reported. So far, there has been no report of a case with oesophageal atresia associated with a terminal deletion of 2q37.1, as reported here.…”

Section: Discussionmentioning

confidence: 96%

Oesophageal atresia with a terminal deletion of chromosome 2q37.1

Masumoto¹,

Suita²,

Taguchi³

2006

Clinical Dysmorphology

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We herein report the case of a newborn girl with oesophageal atresia associated with cardiac and gastrointestinal anomalies, including patent ductus arteriosus, tracheomalacia, and gastro-oesophageal reflux with hiatus hernia. In addition, she had a terminal deletion of the long arm of chromosome 2, with a breakpoint of 2q37.1. The patient died following a cardiac arrest at 90 days of age. No cause of death was identified at autopsy.

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Esophageal and duodenal atresia in a girl with a 12q24.3‐qter deletion

Cited by 12 publications

References 13 publications

Microarray analysis in fetuses with duodenal obstruction: It is not just trisomy 21

Microarray analysis in fetuses with duodenal obstruction: It is not just trisomy 21

Fibroblast growth factor-10 serves a regulatory role in duodenal development

Oesophageal atresia with a terminal deletion of chromosome 2q37.1

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