A patient with 22q11.2 deletion syndrome: case report

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...

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Bibliographic Details
Published inJournal of clinical research in pediatric endocrinology Vol. 1; no. 3; pp. 151 - 154
Main Authors Eryılmaz, Sema Kabataş, Baş, Firdevs, Satan, Ali, Darendeliler, Feyza, Bundak, Rüveyde, Günöz, Hülya, Saka, Nurçin
Format Journal Article
LanguageEnglish
Published Turkey Galenos Publishing 2009
Subjects
22q11 Deletion Syndrome - diagnosis
22q11 Deletion Syndrome - genetics
Age Factors
Case Reports
Child
Chromosome Deletion
Chromosomes, Human, Pair 22 - genetics
Diagnosis, Differential
Humans
Hypocalcemia - etiology
Hypoparathyroidism - complications
Male
Phenotype
Seizures - etiology
22q11.2 deletion syndrome
hypocalcemia
hypoparathyroidism
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Summary: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.
ISSN:1308-5727
1308-5735
DOI:10.4008/jcrpe.v1i3.46