Deleciones intragénicas NRXN1: aportación de tres nuevos casos y revisión del fenotipo / Intragenic deletions of NRXN1: three new case reports and a review of the phenotype

Objetivo. Aportar datos sobre el fenotipo determinado por las microdeleciones de los exones α del gen NRXN1. Casos clínicos. Se estudian tres casos neuropediátricos con microdeleciones intragénicas NRXN1 α. El fenotipo en estos tres casos es inespecífico, con retraso mental leve-moderado, trastornos de comportamiento y escasos rasgos dismórficos o malformaciones. Conclusión. El fenotipo encontrado en las microdeleciones de los exones α del gen NRXN1 es claramente distinguible del fenotipo encontrado en las microdeleciones de los exones β, con macrocefalia, epilepsia y retraso mental (AU)

Aim. To offer data on the phenotype determined by microdeletions of α exons in the NRXN1 gene. Case reports. Three neuropaediatric cases of intragenic microdeletions of NRXN1 α are studied. The phenotype of these three cases is unspecific, with mild-moderate mental retardation, behavioural disorders and slight dysmorphic traits or malformations. Conclusions. The phenotype found in the microdeletions of α exons of the NRXN1 gene is clearly distinguishable from the one found in the microdeletions of β exons, with macrocephaly, epilepsy and mental retardation (AU)

[Intragenic deletions of NRXN1: three new case reports and a review of the phenotype]. / Deleciones intragénicas NRXN1: aportación de tres nuevos casos y revisión del fenotipo.

AIM: To offer data on the phenotype determined by microdeletions of alpha exons in the NRXN1 gene. CASE REPORTS: Three neuropaediatric cases of intragenic microdeletions of NRXN1 alpha are studied. The phenotype of these three cases is unspecific, with mild-moderate mental retardation, behavioural disorders and slight dysmorphic traits or malformations. CONCLUSIONS: The phenotype found in the microdeletions of alpha exons of the NRXN1 gene is clearly distinguishable from the one found in the microdeletions of beta exons, with macrocephaly, epilepsy and mental retardation.

TITLE: Deleciones intragenicas NRXN1: aportacion de tres nuevos casos y revision del fenotipo.Objetivo. Aportar datos sobre el fenotipo determinado por las microdeleciones de los exones alfa del gen NRXN1. Casos clinicos. Se estudian tres casos neuropediatricos con microdeleciones intragenicas NRXN1 alfa. El fenotipo en estos tres casos es inespecifico, con retraso mental leve-moderado, trastornos de comportamiento y escasos rasgos dismorficos o malformaciones. Conclusion. El fenotipo encontrado en las microdeleciones de los exones alfa del gen NRXN1 es claramente distinguible del fenotipo encontrado en las microdeleciones de los exones beta, con macrocefalia, epilepsia y retraso mental.

[X tetrasomy (48,XXXX karyotype) in a girl with altered behavior]. / Tetrasomía X (cariotipo 48,XXXX) en una niña con trastorno de conducta.

INTRODUCTION: We report the case of a 14-year-old girl with mental retardation and dysmorphic features referred to child psychiatry because of altered behavior at school. MATERIAL AND METHODS: Karyotyping (GTG banding), in situ fluorescent hybridization (FISH) and molecular study of parental origin by polymorphic STS were performed. RESULTS: Genetic study revealed a 48,XXXX karyotype with a maternal origin of the X-tetrasomy. The mechanism was successive non-dysjunction at meiosis I and II. CONCLUSIONS: The interest of this case lies in the rarity of the chromosomal anomaly and its late diagnosis, leading to a failure to adapt the girl's education to her needs, with consequences for her psyche.