Variabilidad del fenotipo del síndrome de microdeleción 1q21.1 dentro de una misma familia: importancia de la detección de trastornos neuropsiquiátricos para el diagnóstico de síndromes genéticos. [caso clínico]
Por: Sánchez del Pozo, Jaime [Endocrinología Pediátrica]
| Cruz Rojo, Jaime [Pediatría] | Moreno García, M [Genética].
Colaborador(es): Servicio de Pediatría-Neonatología | Servicio de Genética.
Tipo de material: 
ArtículoEditor: Revista de neurología, 2015Descripción: 61(12):550-6.Recursos en línea: Solicitar documento Resumen: Introduction: 1q21.1 microdeletion syndrome is a caused by a recurrent deletion of the 1q21.1 copy-number variant, which spans 800 kb and includes at least seven genes. It is associated with a variable phenotype. Neuropsychiatric abnormalities have been previously described in many of the previously reported cases, but its true prevalence is unknown.
Aim: To illustrate the phenotypic variability in 1q21.1 microdeletion syndrome.
Case reports: Four individuals of the same kindred harboring a 1.74-Mb deletion within 1q21.1 are included. In our patients a heterogeneous phenotype is recognized. Neuropsychiatric disorders or more specifically impulse control disorders were common to all the four cases that we present.
Conclusions: 1q21.1 microdeletion syndrome is phenotypically heterogeneous even among members of the same family. Behavioral or neuropsychiatric abnormalities are frequent. Paucisymptomatic forms with individuals presenting exclusively psychiatric disorders have been identified.
| Tipo de ítem | Ubicación actual | Signatura | Estado | Fecha de vencimiento |
|---|---|---|---|---|
Caso clínico
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PC17239 (Navegar estantería) | Disponible |
Formato Vancouver:
Natera De Benito D, Vidal Esteban A, Sánchez Del Pozo J, Moreno García M, Suela Rubio J, Cruz-Rojo J et al. Variabilidad del fenotipo del síndrome de microdeleción 1q21.1 dentro de una misma familia: importancia de la detección de trastornos neuropsiquiátricos para el diagnóstico de síndromes genéticos. Rev Neurol. 2015 Dec 16;61(12):550-6.
PMID: 26662873
Contiene 18 referencias
Introduction: 1q21.1 microdeletion syndrome is a caused by a recurrent deletion of the 1q21.1 copy-number variant, which spans 800 kb and includes at least seven genes. It is associated with a variable phenotype. Neuropsychiatric abnormalities have been previously described in many of the previously reported cases, but its true prevalence is unknown.
Aim: To illustrate the phenotypic variability in 1q21.1 microdeletion syndrome.
Case reports: Four individuals of the same kindred harboring a 1.74-Mb deletion within 1q21.1 are included. In our patients a heterogeneous phenotype is recognized. Neuropsychiatric disorders or more specifically impulse control disorders were common to all the four cases that we present.
Conclusions: 1q21.1 microdeletion syndrome is phenotypically heterogeneous even among members of the same family. Behavioral or neuropsychiatric abnormalities are frequent. Paucisymptomatic forms with individuals presenting exclusively psychiatric disorders have been identified.
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