title: 3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age.
abstract: We report a patient with mental retardation, epilepsy, overgrowth, delayed bone age, peculiar facial features, corpus callosum hypoplasia, enlarged cisterna magna and right cerebellar hypoplasia. Array-CGH analysis revealed the presence of a de novo 3.2 Mb interstitial deletion of the long arm of chromosome 7 involving bands q22.2-q22.3. The rearrangement includes 15 genes and encompasses a genomic region that represents a site of frequent loss of heterozygosity in myeloid malignancies. Four genes are implicated in the control of cell cycle: SRPK2, MLL5, RINT1 and LHFPL3. Haploinsufficiency of these genes might therefore be associated with overgrowth and could confer susceptibility to cancers or other tumours, so that attention to this possibility would be appropriate during regular medical review. In conclusion, array-CGH analysis should be performed in patients with overgrowth where the known causes have already been excluded, because some still unclassified overgrowth syndromes may be caused by subtle genomic imbalances.
authors.affiliation: Medical Genetics, University of Siena, Italy.
authors.forename: Vera
authors.initials: V
authors.lastname: Uliana
authors.forename: Salvatore
authors.initials: S
authors.lastname: Grosso
authors.forename: Maddalena
authors.initials: M
authors.lastname: Cioni
authors.forename: Francesca
authors.initials: F
authors.lastname: Ariani
authors.forename: Filomena T
authors.initials: FT
authors.lastname: Papa
authors.forename: Silvia
authors.initials: S
authors.lastname: Tamburello
authors.forename: Elisa
authors.initials: E
authors.lastname: Rossi
authors.forename: Eleni
authors.initials: E
authors.lastname: Katzaki
authors.forename: Mafalda
authors.initials: M
authors.lastname: Mucciolo
authors.forename: Annabella
authors.initials: A
authors.lastname: Marozza
authors.forename: Marzia
authors.initials: M
authors.lastname: Pollazzon
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Mencarelli
authors.forename: Francesca
authors.initials: F
authors.lastname: Mari
authors.forename: Paolo
authors.initials: P
authors.lastname: Balestri
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
mesh_terms: D001842:Bone and Bones / Q000473:pathology; D002453:Cell Cycle; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D055028:Comparative Genomic Hybridization; D003337:Corpus Callosum / Q000473:pathology; D019066:Facies; D006130:Growth Disorders / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome