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Title: Emerging patterns of cryptic chromosomal imbalances in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of the literature
Authors: Menten, Björn ×
Maas, Nicole
Thienpont, Bernard
Buysse, Karen
Vandesomple, Joke
Melotte, Cindy
de Ravel, Thomy
Van Vooren, Steven
Balikova, Irina
Backx, Liesbeth
Janssens, Sandra
De Paepe, Anne
De Moor, Bart
Moreau, Yves
Marynen, Peter
Fryns, Jean-Pierre
Mortier, Geert
Devriendt, Koenraad
Speleman, Frank
Vermeesch, Joris #
Issue Date: Aug-2006
Publisher: British Medical Association
Series Title: Journal of Medical Genetics vol:43 issue:8 pages:625-633
Abstract: BACKGROUND: Chromosomal abnormalities are a major cause of mental retardation and multiple congenital anomalies (MCA/MR). Screening for these chromosomal imbalances has mainly been done by standard karyotyping. Previous array CGH studies on selected patients with chromosomal phenotypes and normal karyotypes suggested an incidence of 10-15% of previously unnoticed de novo chromosomal imbalances. OBJECTIVE: To report array CGH screening of a series of 140 patients (the largest published so far) with idiopathic MCA/MR but normal karyotype. RESULTS: Submicroscopic chromosomal imbalances were detected in 28 of the 140 patients (20%) and included 18 deletions, seven duplications, and three unbalanced translocations. Seventeen of 24 imbalances were confirmed de novo and 19 were assumed to be causal. Excluding subtelomeric imbalances, our study identified 11 clinically relevant interstitial submicroscopic imbalances (8%). Taking this and previously reported studies into consideration, array CGH screening with a resolution of at least 1 Mb has been undertaken on 432 patients with MCA/MR. Most imbalances are non-recurrent and spread across the genome. In at least 8.8% of these patients (38 of 432) de novo intrachromosomal alterations have been identified. CONCLUSIONS: Array CGH should be considered an essential aspect of the genetic analysis of patients with MCA/MR. In addition, in the present study three patients were mosaic for a structural chromosome rearrangement. One of these patients had monosomy 7 in as few as 8% of the cells, showing that array CGH allows detection of low grade mosaicisims.
URI: 
ISSN: 0022-2593
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Division of Gene Technology (-)
ESAT - STADIUS, Stadius Centre for Dynamical Systems, Signal Processing and Data Analytics
Molecular Genetics Section (-)
Clinical Genetics Section (-)
Laboratory for Genetics of Human Development
Clinical Genetics
Department of Human Genetics - miscellaneous
Education and Training
× corresponding author
# (joint) last author

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