RESUMEN
CASE REPORT: We describe an unusual clinical case with an 11-Mb deletion at 4q27 (chr4: 123094652-134164491), craniosynostosis (CS), mild psychomotor retardation, and facial dysmorphic features. This deletion involves 18 genes; FGF2, NUDT6, and SPRY1 are primarily or secondarily implicated in human cranial bone and sagittal suture development and could play an important role in CS. CONCLUSIONS: Clinicians should always contemplate genetic studies in patients with syndromic CS. Mutational targeted genetic testing is appropriate for patients with classical or specific CS syndrome. Nevertheless, array comparative genomic hybridization (array CGH) should be considered as a first-line test in nontypical syndromic CS phenotype. Cytogenetic studies are decisive for genetic counseling indeed.
Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos Par 4/genética , Craneosinostosis/genética , Discapacidad Intelectual/genética , Atrofia Muscular/genética , Trastornos Psicomotores/genética , Niño , Anomalías Craneofaciales , Facies , Retardo del Crecimiento Fetal/genética , Factor 2 de Crecimiento de Fibroblastos/genética , Estudios de Asociación Genética , Asesoramiento Genético , Predisposición Genética a la Enfermedad/genética , Genotipo , Humanos , Masculino , Proteínas de la Membrana/genética , Fosfoproteínas/genética , Proteínas/genéticaRESUMEN
Interstitial microduplication of 3q29 has been recently described. Individuals with this syndrome have widely variable phenotypes. We describe the first clinical case with a 1.607 Mb duplication at 3q29 (chr3: 195,731,956-197,339,329), accompanied by severe intellectual disability, epilepsy, and cerebral palsy. This duplication involves 22 genes; PAK2, DLG1, BDH1, and FBXO45 are implicated in neuronal development and synaptic function and could play an important role in this syndrome. We propose considering genetic studies, particularly array comparative genomic hybridization, in patients with epilepsy and/or cerebral palsy of unknown etiology when dysmorphic features are present.