Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence.
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).
Lindgren
V
V
Department of Obstetrics and Gynecology, University of Chicago, Illinois 60637.
Rosinsky
B
B
Chin
J
J
Berry-Kravis
E
E
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