title: A patient with 22q11.2 deletion syndrome: case report.
abstract: 22q11 deletion is one of the most frequently encountered genetic syndromes. The phenotypic spectrum shows a wide variability. We report a boy who presented at age 11.9 years with seizures due to hypocalcemia as a result of hypoparathyroidism. FISH analysis revealed a heterozygote deletion at 22q11.2. Positive findings for the syndrome were delayed speech development due to velofacial dysfunction, recurrent croup attacks in early childhood due to latent hypocalcemia and mild dysmorphic features. The findings of this patient indicate that 22q11 deletion syndrome may present with a wide spectrum of clinical findings and that this diagnosis needs to be considered even in patients of older ages presenting with hypocalcemia.
authors.affiliation: İstanbul University, İstanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit, İstanbul, Turkey. semakabatas@yahoo.com
authors.forename: Sema Kabataş
authors.initials: SK
authors.lastname: Eryılmaz
authors.forename: Firdevs
authors.initials: F
authors.lastname: Baş
authors.forename: Ali
authors.initials: A
authors.lastname: Satan
authors.forename: Feyza
authors.initials: F
authors.lastname: Darendeliler
authors.forename: Rüveyde
authors.initials: R
authors.lastname: Bundak
authors.forename: Hülya
authors.initials: H
authors.lastname: Günöz
authors.forename: Nurçin
authors.initials: N
authors.lastname: Saka
mesh_terms: D058165:22q11 Deletion Syndrome / Q000175:diagnosis* / Q000235:genetics*; D000367:Age Factors; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D006996:Hypocalcemia / Q000209:etiology; D007011:Hypoparathyroidism / Q000150:complications; D008297:Male; D010641:Phenotype; D012640:Seizures / Q000209:etiology