| Autor: |
Pen-Hua Su, Jia-Yuh Chen, Suh-Jen Chen, Kai-Chi Yang |
| Jazyk: |
angličtina |
| Rok vydání: |
2008 |
| Předmět: |
|
| Zdroj: |
Pediatrics and Neonatology, Vol 49, Iss 3, Pp 88-93 (2008) |
| Druh dokumentu: |
article |
| ISSN: |
1875-9572 |
| DOI: |
10.1016/S1875-9572(08)60019-4 |
| Popis: |
Terminal deletions of chromosome 6q are rare. Clinical features associated with 6q terminal deletion syndrome include psychomotor retardation, seizures, hypotonia, short neck, and facial abnormalities, as well as various case-specific anomalies. Here, we describe a girl with 6q terminal deletion syndrome and unusually short stature. Features of previously described patients are also summarized. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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