BSMHTILPNZM4GXX3GB6UIKGKY3I5LMMXZMNC2IM655CS4STENLAAC
6BY4FR4DKIFWRS66LZVWNIAUQRFPPR4MNPKN6XX33GQ7CGCVANKQC
JLH7LJC6KATCDJPI6LSA76FR7KLI4TXDMPTKOKVQ3UEJXA46EAYAC
XS2354QE7WE5TTV7ZNLFIJY7VVFAQS5AKFUCVSJAB4DIRWLDOT6AC
CJCIXE4AOHVDAMVB5K66ABTJQIZI3JNI73PN2SS4ZZVUG2XQPBMQC
DG35GG7WWJGMHWN55Q4VPZXYGXYFTZ53KSXO5GGLFZROMQ6HFN2AC
UCY46OGXVFKTTU3P77DSKMHWUIPLZM4E35YH7ZPKFOACFXUGQ3YQC
#+caption: Copyright Elsevier 2013. Source :https://pap-pediatrie.fr/douleur-neuro/diagnostic-etiologique-dune-deficience-intellectuelle
[[file:img/retard-psychomot.png]]
** ACPA
- [[Deletion 1p36]]
- del4p [[Syndrome du cri du chat]]
- del5p [[Syndrome de Wolf-Hirschhorn]]
- del7q11 [[Syndrome de Williams-Burren]]
- del11p13 [[Syndrome WAGRO]]
- del17p12 [[Syndrome de Smith-Magenis]]
- del16p13 [[Syndrome de Smith-Magenis]]
- del22q11 [[Microduplication 22q11.2]]
- del22q13 [[Syndrome de Phelan McDermid]]
Rendement diagnostique 10-15%
* Deletion 1p36
DI modérée/sévère
Enophtalmie
Sourcils horizontaux
Syndrome de West
#+caption: Source: Jordan et al 2015
[[file:img/del1p36.png]]