Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence

Journal Article · Sat Jan 01 04:00:00 EST 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320490112· OSTI ID:86474

Lindgren, V; Rosinsky, B; Chin, J ^[1]; Berry-Kravis, E ^[2]

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1. Univ. of Chicago, IL (United States)
2. Rush Presbyterian St. Luke`s Medical Center, Chicago, IL (United States)

Duplications of chromosome 9q are rare. The authors 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). 31 refs., 4 figs., 1 tab.

• Sponsoring Organization: USDOE
• OSTI ID: 86474
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 1 Vol. 49; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
DNA HYBRIDIZATION
GENE MUTATIONS
HUMAN CHROMOSOME 9
ONTOGENESIS