Title: Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication
Authors: Gentile, M ×
Wuyts, Wim
Grittani, S
Di Carlo, A
Cariola, F
Verdyck, P
Margari, L
Perniola, T
Buonadonna, A L #
Issue Date: Apr-2004
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics A vol:127 issue:2 pages:186-90
Abstract: We report a 19-year-old woman with minor craniofacial anomalies, mild mental retardation, and foramina parietalia permagna (FPP) (OMIM 168500). Cytogenetic analysis showed a de novo interstitial chromosome 22 long arm duplication. FISH with a panel of chromosome 22q12-q13 bands-specific BAC clones refined the cytogenetic investigation, and restricted the duplicated segment to the q12 region. Mutation analysis of FPP genes identified an insertion mutation in the ALX4 gene (344insC) in the proband and her father with loss of function of the gene. The patient's phenotype is considered in the light of the results of the cytogenetic, FISH, and molecular investigations, and her features are compared with those of other patients with similar duplications. Finally, variable phenotypic findings due to different 22q duplicated chromosomal segments are discussed. Our report indicates that 22q12 interstitial duplications are associated with craniofacial anomalies and mild mental retardation, while life threatening malformations are usually not present. Although these phenotypic changes are common and non-specific, molecular study of our patient established more precise relationships between clinical findings and 22q duplicated region(s). This approach fosters better counseling of the families of patients with newly diagnosed, similar duplications.
ISSN: 1552-4825
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Molecular Cell Biology (-)
× corresponding author
# (joint) last author

Files in This Item:

There are no files associated with this item.

Request a copy


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science