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[Partial deletion of the short arm of chromosome 4 (the Wolf-Hirschhorn syndrome) with reference to the neurological and electroencephalographic aspects]. 1994
Divisione di Neuropsichiatria Infantile, Centro Regionale per l'Epilessia di Sondrio, Italia.
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.
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