合計: 3 |
|
PMID (PMCID) | ||
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15690344 |
FEMALE | Infant |
Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia. | ||
Tsao CY, Wenger GD, Bartholomew DW. Am J Med Genet A. 2005;134A(2):198-201. |
||
Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia. | ||
15690344 |
FEMALE | Infant |
Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia. | ||
Tsao CY, Wenger GD, Bartholomew DW. Am J Med Genet A. 2005;134A(2):198-201. |
||
This is the first case with Cri du chat syndrome associated with nonketotic hyperglycinemia, infantile spasms, hypsarrhythmia, and heterotopia. | ||
15690344 |
FEMALE | Infant |
Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia. | ||
Tsao CY, Wenger GD, Bartholomew DW. Am J Med Genet A. 2005;134A(2):198-201. |
||
We report on the clinical and cytogenetic findings in a girl with Cri du chat syndrome associated with complex abnormalities in chromosome 5, dysmorphic features, flexor infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia in her brain. |