Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay.
We report on a 6-years-old boy with psychomotor retardation, mild dysmorphic features and behavioral disturbances associated with epilepsy. Conventional cytogenetic analysis concluded to an interstitial de novo 6p21.2p22.3 duplication. Molecular cytogenetic analysis, including array-CGH technology, allows characterization of this 7.3Mb interstitial tandem duplication. The phenotype of this small 6p duplication reported to date is compared to other cases in the literature. Presence of epilepsy, although rare in patients with 6p duplication may be linked to genes involved in brain function and synaptic transmission in the 6p21.2p22.1 duplicated region (GABBR1, BRD2 and GRM4).
Andrieux
Joris
J
Laboratoires de Génétique Médicale, Hôpital Jeanne de Flandre, 2 Avenue Oscar Lambret, CHRU, Lille 59000, France. j-andrieux@chru-lille.fr
Richebourg
Steven
S
Duban-Bedu
Bénédicte
B
Petit
Florence
F
Leprêtre
Frédéric
F
Sukno
Sylvie
S
Dehouck
Marie-Bertille
MB
Delobel
Bruno
B
D002648:Child; D002675:Child, Preschool; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D020732:Cytogenetic Analysis; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D020440:Gene Duplication; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis