22q11.2 Deletion Syndrome and Psychiatric Disorders

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Published

2018-03-30

How to Cite

Alberdi Páramo, Í, Ladrón Jiménez, A., Gutiérrez Fernández, N., & Pérez Moreno, R. (2018). 22q11.2 Deletion Syndrome and Psychiatric Disorders. Revista De Psiquiatría Infanto-Juvenil, 35(1), 43–47. https://doi.org/10.31766/revpsij.v35n1a5

Issue

Vol. 35 No. 1 (2018)

Section

Case reports
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Scopus
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Europe PMC

Authors

  • Í Alberdi Páramo Instituto de Psiquiatría y Salud Mental, Hospital Clínico San Carlos
  • A Ladrón Jiménez Instituto de Psiquiatría y Salud Mental, Hospital Clínico San Carlos
  • N Gutiérrez Fernández Instituto de Psiquiatría y Salud Mental, Hospital Clínico San Carlos
  • R Pérez Moreno Instituto de Psiquiatría y Salud Mental, Hospital Clínico San Carlos

DOI:

https://doi.org/10.31766/revpsij.v35n1a5

Keywords:

Deletion 22q11.2 Syndrome, DiGeorge Syndrome, Velo-cardio-facial syndrome, Comorbidity, Autistic Spectrum Disorder

Abstract

22q11.2 Deletion Syndrome or DiGeorge Syndrome is a genetic disorder characterized by the clinical triad conotruncal cardiac anomalies, thymic hypoplasia and hypocalcemia. However, the 22q11.2 phenotype is quite variable, including physical, metabolic, endocrinological and behavioral and developmental abnormalities. It includes a psychopathological association with different psychiatric syndromes. We describe the case of a 16-yearold ale with diagnostic criteria for Autism Spectrum Disorder framed in a 22q11.2 Deletion Syndrome.

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Author Biography

Í Alberdi Páramo, Instituto de Psiquiatría y Salud Mental, Hospital Clínico San Carlos

Instituto de Psiquiatría y Salud Mental Hospital Clínico San Carlos, Madrid.
Calle del Profesor Martín Lagos S/N 28040
inigoalb@ucm.es

References

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2. Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 2011; 159:332.

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