title: De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features.
abstract: We report on a 27 month old boy presenting with psychomotor delay and dysmorphic features, mainly mild facial asymmetry, prominent cup-shaped ears, long eyelashes, open mouth appearance and slight abnormalities of the hands and feet. Array comparative genomic hybridization revealed a 393 kb microdeletion in 7p11.2. We discuss the possible involvement of CHCHD2, GBAS, MRPS17, SEPT14 and PSPH on our patient's phenotype. Additionally, we studied the expression of two other genes deleted in the patient, CCT6A and SUMF2, for which there is scarce data in the literature. Based on current knowledge and the de novo occurrence of this finding in our proband we presume that the aberration is likely to be pathogenic in our case. However, a single gene disorder, elsewhere in the genome or in this very region cannot be ruled out. Further elucidation of the properties of this chromosomal region, as well as of the role of the genes involved will be needed in order to draw safe conclusions regarding the association of the chromosomal deletion with the patient's features.
authors.affiliation: Department of Genetics, Institute of Child Health, Athens, Greece.
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Varvagiannis
authors.affiliation: Eurogenetica S.A., Laboratory of Genetics, Athens-Thessaloniki, Greece.
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papoulidis
authors.affiliation: Laboratory of Human Genetics, Department of Biology, University of Athens, Athens, Greece.
authors.forename: Theodora
authors.initials: T
authors.lastname: Koromila
authors.affiliation: Bioiatriki S.A., Laboratory of Genetics, Athens, Greece.
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Kefalas
authors.affiliation: Institute of Human Genetics Anthropology, Jena University Hospital, Jena, Germany.
authors.forename: Monika
authors.initials: M
authors.lastname: Ziegler
authors.affiliation: Institute of Human Genetics Anthropology, Jena University Hospital, Jena, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.affiliation: Department of Genetics, Institute of Child Health, Athens, Greece.
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen
authors.affiliation: Department of Genetics, Institute of Child Health, Athens, Greece.
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Gyftodimou
authors.affiliation: Eurogenetica S.A., Laboratory of Genetics, Athens-Thessaloniki, Greece ; Cattedra di Genetica Medica, Ospedale Binaghi, Cagliari, Italy.
authors.forename: Emmanouil
authors.initials: E
authors.lastname: Manolakos
keywords: CCT6A; CHCHD2; Deletion 7p11.2; Dysmorphic features; GBAS; MRPS17; PSPH; Psychomotor delay; SEPT14; SUMF2