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DiGeorge Syndrome & Schizophrenia

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DiGeorge Syndrome & Schizophrenia Empty DiGeorge Syndrome & Schizophrenia

Post  Admin on Mon Jun 10, 2013 8:29 pm

DiGeorge Syndrome & Schizophrenia

Hi friends,
I saw a patient today with DiGeorge syndrome and chronic paranoid schizophrenia. Here are some interesting facts on this topic:

The deletion occurs near the middle of the chromosome at a location designated 22q11.2

Salient features:
They can be summarized using the mnemonic CATCH-22 to describe DiGeorge syndrome, with the 22 to remind one the chromosomal abnormality is found on the 22 chromosome, as below:
* Cardiac Abnormality (especially tetralogy of Fallot)
* Abnormal facies
* Thymic aplasia
* Cleft palate
* Hypocalcemia/Hypoparathyroidism.

* 22q11.2 deletion syndrome (22qDS) represents one of the largest known genetic risk factors for schizophrenia. Approximately 30% of individuals with 22qDS develop psychotic illness in adolescence or young adulthood.

Please post your inputs on the treatment of Schizophrenia in DiGeorge Syndrome. Do specific antipsychotics are more beneficial or more harmful in this populations. Thanks.

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DiGeorge Syndrome & Schizophrenia Empty Re: DiGeorge Syndrome & Schizophrenia

Post  adisuper on Fri Jun 14, 2013 11:50 am

the deletion is caused by the presence of 4 blocks of LCRs in this region named LCR A-D.At least 35 genes are present in commonly deleted region. Haploinsufficiency of TBX1 has been shown to cause cardiac phenotype.
Variants in genes mapping to this region might contribute to cases of schizophrenia that do  not have 22q11.2 deletions,one good candidate being COMT involved in metabolism of monoamines.


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