title: Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients.
abstract: During the last few years, an increasing number of microdeletion/microduplication syndromes have been delineated. This rapid evolution is mainly due to the availability of microarray technology as a routine diagnostic tool. Microdeletions of the 21q22.11q22.12 region encompassing the RUNX1 gene have been reported in nine patients presenting with syndromic thrombocytopenia and mental retardation. RUNX1 gene is responsible for an autosomal dominant platelet disorder with predisposition to acute myelogenous leukemia. We report on three novel patients with an overlapping "de novo" interstitial deletion involving the band 21q22 characterized by array-CGH. All our patients presented with severe developmental delay, dysmorphic features, behavioral problems, and thrombocytopenia. Comparing the clinical features of our patients with the overlapping ones already reported two potential phenotypes related to 21q22 microdeletion including RUNX1 were highlighted: thrombocytopenia with +/- mild dysmorphic features and syndromic thrombocytopenia with growth and developmental delay.
authors.affiliation: Medical Genetics, University of Siena, Siena, Italy.
authors.forename: Eleni
authors.initials: E
authors.lastname: Katzaki
authors.forename: Gilles
authors.initials: G
authors.lastname: Morin
authors.forename: Marzia
authors.initials: M
authors.lastname: Pollazzon
authors.forename: Filomena Tiziana
authors.initials: FT
authors.lastname: Papa
authors.forename: Sabrina
authors.initials: S
authors.lastname: Buoni
authors.forename: Joussef
authors.initials: J
authors.lastname: Hayek
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.forename: Laure
authors.initials: L
authors.lastname: Lecerf
authors.forename: Cornel
authors.initials: C
authors.lastname: Popovici
authors.forename: Aline
authors.initials: A
authors.lastname: Receveur
authors.forename: Michèle
authors.initials: M
authors.lastname: Mathieu-Dramard
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
authors.forename: Francesca
authors.initials: F
authors.lastname: Mari
authors.forename: Nicole
authors.initials: N
authors.lastname: Philip
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics*; D008297:Male; D011247:Pregnancy; D013577:Syndrome; D013921:Thrombocytopenia / Q000150:complications* / Q000235:genetics*; D055815:Young Adult