title: [Partial deletion of the short arm of chromosome 4 (the Wolf-Hirschhorn syndrome) with reference to the neurological and electroencephalographic aspects].
abstract: We describe a case of Wolf-Hirschhorn syndrome (partial deletion of the short arm of chromosome 4). The syndrome is characterized by mental and growth retardation and characteristic facial dysmorphism. The fetus was karyotyped for severe intrauterine growth retardation diagnosed on routine ultrasound. High resolution chromosomal analysis of infant and parents showed "de novo" deletion. Very interesting in our case are ictal phenomena and neurological development.
authors: Divisione di Neuropsichiatria Infantile, Centro Regionale per l'Epilessia di Sondrio, Italia.
authors: F
authors: F
authors: Bonaventura
authors: P
authors: P
authors: Adamoli
authors: E
authors: E
authors: Bernardini
authors: M
authors: M
authors: Branchi
authors: A
authors: A
authors: Siani
authors: G
authors: G
authors: Bonora
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000523:psychology; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000523:psychology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002894:Chromosomes, Human, Pair 4; D004562:Electrocardiography; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009460:Neurologic Examination; D009484:Neuropsychology; D013577:Syndrome
vernacular_title: Delezione parziale del braccio corto del cromosoma 4 (sindrome di Wolf-Hirschhorn) con riferimento ad aspetti neurologici ed elettroencefalografici.