title: Esophageal stenosis in a child presenting a de novo 7q terminal deletion.
abstract: We report on the first case of a child with a de novo 7q terminal deletion [46,XX,del(7)(q35 → qter)] presenting esophageal stenosis. This cytogenetic abnormality was confirmed by FISH, using subtelomeric probes, and by a whole-genome array-CGH assay. The child also had phenotypic features previously described in patients with a similar deletion, as growth retardation, microcephaly, coloboma of papilla, ptosis, hearing loss, urinary tract anomalies, partial agenesis of sacrum, hypotonia and neuropsychomotor delay. The odontoid hypoplasia identified, in similarity with the esophageal stenosis, represents an uncommon finding. This report is also the first clinical description of a patient with an abnormality involving the sonic hedgehog gene and an esophageal alteration. It is discussed the possibility of a specific association between them, according to some results observed in studies with animal models.
authors.forename: Paulo R G
authors.initials: PR
authors.lastname: Zen
authors.forename: Mariluce
authors.initials: M
authors.lastname: Riegel
authors.forename: Rafael F M
authors.initials: RF
authors.lastname: Rosa
authors.forename: Louise L C
authors.initials: LL
authors.lastname: Pinto
authors.forename: Carla
authors.initials: C
authors.lastname: Graziadio
authors.forename: Ida V D
authors.initials: IV
authors.lastname: Schwartz
authors.forename: Giorgio A
authors.initials: GA
authors.lastname: Paskulin
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001003:Anal Canal / Q000002:abnormalities; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D003103:Coloboma / Q000235:genetics; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities; D004940:Esophageal Stenosis / Q000235:genetics*; D004947:Esophagus / Q000002:abnormalities; D005260:Female; D034381:Hearing Loss / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D053823:Hedgehog Proteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities; D017880:Limb Deformities, Congenital / Q000235:genetics; D008831:Microcephaly / Q000235:genetics; D013131:Spine / Q000002:abnormalities; D014132:Trachea / Q000002:abnormalities
chemical_list: D053823:Hedgehog Proteins; C509239:SHH protein, human