title: Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence.
abstract: Duplications of chromosome 9q are rare. We describe the cytogenetic and phenotypic findings in 2 patients, one with a large duplication covering most of 9q(q12-q33.2) and one with a smaller duplication (q21.12-q22.1) who had Di George sequence (DGS). The chromosome 9 origin of the extra material in the second case was confirmed by fluorescence in situ hybridization (FISH) analysis with a whole chromosome 9 paint. Microdeletions of chromosome 22 are common in DGS and have been reported in CHARGE association. This is the first report of an association of a chromosome 9 abnormality with DGS in the absence of a chromosome 22 abnormality and the seventh report of a patient with a duplication of a large portion of 9q (q11-q13 to q32-q33).
authors.affiliation: Department of Obstetrics and Gynecology, University of Chicago, Illinois 60637.
authors.forename: V
authors.initials: V
authors.lastname: Lindgren
authors.forename: B
authors.initials: B
authors.lastname: Rosinsky
authors.forename: J
authors.initials: J
authors.lastname: Chin
authors.forename: E
authors.initials: E
authors.lastname: Berry-Kravis
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002899:Chromosomes, Human, Pair 9 / Q000648:ultrastructure*; D003409:Congenital Hypothyroidism; D004062:DiGeorge Syndrome / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D005810:Multigene Family; D009898:Optic Disk / Q000002:abnormalities; D010159:Palate / Q000002:abnormalities