[Partial deletion of the short arm of chromosome 4 (the Wolf-Hirschhorn syndrome) with reference to the neurological and electroencephalographic aspects].
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.
Bonaventura
F
F
Divisione di Neuropsichiatria Infantile, Centro Regionale per l'Epilessia di Sondrio, Italia.
Adamoli
P
P
Bernardini
E
E
Branchi
M
M
Siani
A
A
Bonora
G
G
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
Delezione parziale del braccio corto del cromosoma 4 (sindrome di Wolf-Hirschhorn) con riferimento ad aspetti neurologici ed elettroencefalografici.