| Autor: |
Chabchoub, E, Vermeesch, J.R., de Ravel, T, de Cock, P, Fryns, J-P |
| Předmět: |
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| Zdroj: |
Journal of Medical Genetics; Mar2008, Vol. 45 Issue 3, p189-192, 4p, 6 Black and White Photographs, 1 Diagram, 1 Chart, 1 Graph |
| Abstrakt: |
The article reports on the facial dysmorphy in the newly recognized microdeletion 2p 15-p16.1 refined to a 570 kb region in 2p15. It is stated that Rajcan-Separovic characterized a new microdeletion syndrome involving chromosome 2p15-16.1 in two patients with an autistic disorder and multiple congenital anomalities with recognizable dysmorphic features. It is said that a 570 kb de novo microdeletion at 2p15 was detected. |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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