Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH gene.
Eur J Med Genet
; 59(10): 546-8, 2016 Oct.
Article
en En
| MEDLINE
| ID: mdl-27614115
ABSTRACT
Terminal 7q deletion is rarely reported in the literature. Holoprosencephaly and sacral dysgenesis are found in association with this deletion, due to haploinsufficiency of SHH and HLBX9 genes respectively. We report on a 2-year-old boy with 7q35-36.3 deletion encompassing SHH identified by oligonucleotide array comparative genomic hybridization. In addition to other frequent features, the patient presented with esophageal atresia and tracheoeosophageal fistula diagnosed at birth. This case, together with two others previously described, one presenting with esophageal atresia, the other with congenital esophageal stenosis, confirms the possible association between congenital esophageal malformations and 7q terminal deletion including SHH.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
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Fístula Traqueoesofágica
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Atresia Esofágica
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Proteínas Hedgehog
Tipo de estudio:
Prognostic_studies
Límite:
Humans
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Infant
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Male
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Newborn
Idioma:
En
Año:
2016
Tipo del documento:
Article