General Medicine
Online ISSN : 1883-6011
Print ISSN : 1346-0072
ISSN-L : 1346-0072
Case Report
A 32-year-old Woman Diagnosed with 22q11.2 Deletion Syndrome and Complicated by Hypothyroidism
Yosuke SasakiHaruo ObaraAkira Shimabukuro
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ジャーナル フリー

2014 年 15 巻 1 号 p. 72-75

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22q11.2 deletion syndrome (22qDS) resulting from a microdeletion of 22q11.2, is usually diagnosed in the postnatal period, and generally manifests as various combinations of cardiac defects, hypoparathyroidism, facial dysmorphism, palate deformity and cellular immunodeficiency. We report a case of a 32-year-old woman presenting with seizures and hypocalcemia, who was diagnosed with 22qDS, along with a literature review of adult cases. Physicians should recognize the 22qDS in adults presenting with any combinations of hypocalcemia, hypothyroidism, cardiac defects and psychiatric disorders. Pathognomonic facial dysmorphism or short stature can be the key to diagnosis.
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© 2014 Japan Primary Care Association
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