Pure de novo partial trisomy 6p in a girl with craniosynostosis.
Duplications of chromosome 6p are rarely reported. We present the case of a girl with a de novo trisomy 6p12.3-p21.1 who showed clinical features characteristic of this syndrome, notably facial anomalies, psychomotor delay, and recurrent respiratory tract infections. The most striking feature, howev...
| Автори: | , , , , , , , , , , , |
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| Формат: | Journal article |
| Мова: | English |
| Опубліковано: |
2013
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