Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH gene.
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.
Unité de génétique clinique, APHM, CHU Timone-Enfants, France. Electronic address: tiffany.busa@ap-hm.fr.
Tiffany
T
Busa
Service de chirurgie pédiatrique, APHM, CHU Nord, France.
Nicoleta
N
Panait
Service de radiologie pédiatrique, APHM, CHU Nord, France.
Kathia
K
Chaumoitre
Unité de génétique clinique, APHM, CHU Timone-Enfants, France.
Nicole
N
Philip
Unité de cytogénétique constitutionnelle, APHM, CHU Timone-Enfants, France.
Chantal
C
Missirian
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D004933:Esophageal Atresia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D053823:Hedgehog Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017384:Sequence Deletion; D014138:Tracheoesophageal Fistula / Q000150:complications / Q000235:genetics* / Q000503:physiopathology
D053823:Hedgehog Proteins; C509239:SHH protein, human
7q terminal deletion; Oesophageal atresia; SHH gene; Tracheoesophageal fistula