| Autor: |
Christopher J. Hupfeld, MD, Nai-Wen Chi, MD, Kenneth Vaux, MD |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
AACE Clinical Case Reports, Vol 4, Iss 2, Pp 94-97 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
2376-0605 |
| DOI: |
10.4158/EP171882.CR |
| Popis: |
ABSTRACT: Objective: Identify an endocrine developmental syndrome (DiGeorge syndrome, or 22q11 deletion syndrome) that had been previously undiagnosed in an adult patient.Methods: The patient was evaluated in an adult endocrinology clinic. In particular, fluorescence in situ hybridization was used to identify a segmental deletion on chromosome 22.Results: DiGeorge syndrome was positively identified using fluorescence in situ hybridization in our patient.Conclusion: Rare developmental syndromes may be initially diagnosed in adult patients. DiGeorge syndrome should be among the differential diagnoses considered in an adult with hypocalcemia.Abbreviations: 22q11DS 22q11 deletion syndrome DGCR DiGeorge critical region FISH fluorescence in situ hybridization PTH parathyroid hormone |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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