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.
journal_name
J Clin Res Pediatr Endocrinoljournal_title
Journal of clinical research in pediatric endocrinologyauthors
Eryılmaz SK,Baş F,Satan A,Darendeliler F,Bundak R,Günöz H,Saka Ndoi
10.4008/jcrpe.v1i3.46subject
Has Abstractpub_date
2009-01-01 00:00:00pages
151-4issue
3eissn
1308-5727issn
1308-5735journal_volume
1pub_type
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journal_title:Journal of clinical research in pediatric endocrinology
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更新日期:2020-03-19 00:00:00