Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism : Clues to Diagnosis from Dysmorphic Facial Features
Joint Authors
Korpaisarn, Sira
Sriphrapradang, Chutintorn
Trachoo, Objoon
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-04-30
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
We report a 26-year-old Thai man who presented with hypoparathyroidism in adulthood.
He had no history of cardiac disease and recurrent infection.
His subtle dysmorphic facial features and mild intellectual impairment were suspected for chromosome 22q11.2 deletion syndrome.
The diagnosis was confirmed by fluorescence in situ hybridization, which found microdeletion in 22q11.2 region.
The characteristic facial appearance can lead to clinical suspicion of this syndrome.
The case report emphasizes that this syndrome is not uncommon and presents as a remarkable variability in the severity and extent of expression.
Accurate diagnosis is important for genetic counseling and long-term health supervision by multidisciplinary team.
American Psychological Association (APA)
Korpaisarn, Sira& Trachoo, Objoon& Sriphrapradang, Chutintorn. 2013. Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism : Clues to Diagnosis from Dysmorphic Facial Features. Case Reports in Endocrinology،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-499243
Modern Language Association (MLA)
Korpaisarn, Sira…[et al.]. Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism : Clues to Diagnosis from Dysmorphic Facial Features. Case Reports in Endocrinology No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-499243
American Medical Association (AMA)
Korpaisarn, Sira& Trachoo, Objoon& Sriphrapradang, Chutintorn. Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism : Clues to Diagnosis from Dysmorphic Facial Features. Case Reports in Endocrinology. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-499243
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-499243