title: Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3-->q31.3).
abstract: We report on a 3-year-old boy with moderate developmental retardation, microcephaly, and malformations of ears, lids, mouth, and thumbs. Cytogenetic analysis demonstrated a direct duplication of chromosome subregion 4(q21.3-->q31.3). Confirmation of this specific rearrangement was performed by fluorescent in situ hybridization (FISH) with a chromosome painting probe and by means of quantitative Southern hybridization with DNA probes localized within the chromosome 4 region presumed to be duplicated.
authors.affiliation: Department of Genetics, Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314.
authors.forename: A
authors.initials: A
authors.lastname: Jeziorowska
authors.forename: W
authors.initials: W
authors.lastname: Ciesla
authors.forename: G E
authors.initials: GE
authors.lastname: Houck
authors.forename: X L
authors.initials: XL
authors.lastname: Yao
authors.forename: M S
authors.initials: MS
authors.lastname: Harris
authors.forename: B
authors.initials: B
authors.lastname: Truszczak
authors.forename: M
authors.initials: M
authors.lastname: Skorski
authors.forename: L
authors.initials: L
authors.lastname: Jakubowski
authors.forename: E C
authors.initials: EC
authors.lastname: Jenkins
authors.forename: B
authors.initials: B
authors.lastname: Kaluzewski
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D015139:Blotting, Southern; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4; D004247:DNA / Q000032:analysis; D002658:Developmental Disabilities / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D013933:Thumb / Q000002:abnormalities
chemical_list: D004247:DNA