- Genetic Syndromes associated with Congenital Heart Disease
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Ko JM
- KMID: 2223797
- Korean Circ J.
- 2015 Sep;45(5):357-361.
- doi: 10.4070/kcj.2015.45.5.357
Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently... -
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- Monosomy 22 Mosaicism Associated Thrombocytopenia Presenting as Behcet's Disease
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Kim JY, Lee KH, Lee SC, Lee JY
- KMID: 1441721
- Clin Pediatr Hematol Oncol.
- 2012 Apr;19(1):40-43.
We describe an 18 year old female with monosomy 22 mosaicism and thrombocytopenia. She had some unique facial appearance such as small eyes and thin lip, similar to those with... -
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- Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus
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Yoo DY, Kim HJ, Cho KH, Kwon EB, Yoo EG
- KMID: 2383910
- Ann Pediatr Endocrinol Metab.
- 2017 Jun;22(2):133-138.
- doi: 10.6065/apem.2017.22.2.133
Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of... -
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- A Case Report of Schizophrenia Patient with 22q11 Deletion Syndrome
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Bhang SY, Kim CY, Joo YH, Seu EJ, Ryu HE
- KMID: 1636046
- J Korean Neuropsychiatr Assoc.
- 2003 Jul;42(4):528-531.
It has been well known that 22q deletion syndrome (22qDS), encompasses several genetic syndromes associated with microdeletions at chromosome 22q11.2 became relatively generally identified in the 1990s through the availability... -
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