title: 1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: dissecting the phenotype.
abstract: Braddock-Carey syndrome is characterized by Pierre Robin sequence, agenesis of the corpus callosum, facial dysmorphisms, developmental delay, and congenital thrombocytopenia. Recently, Braddock-Carey syndrome was demonstrated to be caused by chromosomal microdeletion in 21q22 including the RUNX1 gene, whose haploinsufficiency is responsible for thrombocytopenia phenotype. Therefore, the syndrome has emerged as a contiguous gene deletion syndrome. Here, we describe an infant with Pierre Robin sequence, facial anomalies, congenital heart defects, hypotonia, and the absence of thrombocytopenia, who was found to have a 1.9 Mb microdeletion within the Braddock-Carey contiguous deletion syndrome region. This deletion spares the RUNX1 gene, narrowing the genomic region responsible for a part of the Braddock-Carey syndrome phenotype. Further studies are awaited to understand the role of the genes located within 21q22 in the pathogenesis of Braddock-Carey syndrome.
authors.affiliation: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
authors.forename: Kosuke
authors.initials: K
authors.lastname: Izumi
authors.forename: Susan S
authors.initials: SS
authors.lastname: Brooks
authors.forename: Holly A
authors.initials: HA
authors.lastname: Feret
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D006130:Growth Disorders; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010641:Phenotype; D010855:Pierre Robin Syndrome; D013921:Thrombocytopenia / Q000151:congenital*