title: Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases.
abstract: We report on a child with mild mental retardation, hypotelorism, blepharophimosis, face slight asymmetry and partial hypoplasia of corpus callosum, with an interstitial deletion of a chromosome 15. The deletion was molecularly characterized by array-CGH and FISH techniques. This rearrangement has a 7.18Mb extension and maps to 15q21.2q22.1. To date, there have been only six individuals reported with a deletion of 15q21; in three cases, the rearrangement was characterized by molecular cytogenetic techniques. After a comparison with these three cases, it appeared that the deletion we found is one of the smallest and it overlaps the distal portion of the ones taken into account. Finally, we tried to delineate the genotype-phenotype correlation in patients with a deletion of 15q21.
authors.affiliation: Medical Genetics Laboratory, Tecnobios Prenatale srl, Bologna, Italy.
authors.forename: Sergio
authors.initials: S
authors.lastname: Tempesta
authors.forename: Danila
authors.initials: D
authors.lastname: Sollima
authors.forename: Sara
authors.initials: S
authors.lastname: Ghezzo
authors.forename: Valeria
authors.initials: V
authors.lastname: Politi
authors.forename: Barbara
authors.initials: B
authors.lastname: Sinigaglia
authors.forename: Federica
authors.initials: F
authors.lastname: Balducci
authors.forename: Bommina
authors.initials: B
authors.lastname: Celso
authors.forename: Antonino
authors.initials: A
authors.lastname: Restuccia
authors.forename: Marina
authors.initials: M
authors.lastname: Stefani
authors.forename: Roberta
authors.initials: R
authors.lastname: Cernetti
authors.forename: Cinzia
authors.initials: C
authors.lastname: Marzocchi
authors.forename: Roberto
authors.initials: R
authors.lastname: Ciccone
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Luciano
authors.initials: L
authors.lastname: Bovicelli
authors.forename: Loredana
authors.initials: L
authors.lastname: Santarini