Deletion of the long arm of chromosome 6: report on a new case with intractable epilepsy.
Interstitial deletions in the terminal region of chromosome 6 are rare. The deletion most often occurs de novo. Mental retardation is always described. The most characteristic manifestations are microcephaly, micrognathia, hypotonia, typical facial appearance, strabismus, and congenital heart defects. Although this chromosomal syndrome does not appear to have a distinctive phenotype, epileptic seizures are uncommon in affected individuals. We report on a novel finding in a patient with the 46 XX karyotype and del(6)(q25-q26) who developed intractable epilepsy.
Cerminara
Caterina
C
Department of Neuroscience, Division of Pediatric Neurology, Tor Vergata University of Rome, Via Nomentana 1362, 00100 Rome, Italy. caterinacerminara@hotmail.com
Bombardieri
Roberta
R
Pinci
Mariangela
M
Seri
Stefano
S
Curatolo
Paolo
P
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D006801:Humans