Title: Subtelomeric imbalances in phenotypically normal individuals
Authors: Balikova, Irina ×
Menten, Björn
de Ravel, Thomy
Le Caignec, Cédric
Thienpont, Bernard
Urbina, Montse
Doco-Fenzy, Martine
de Rademaeker, Marjan
Mortier, Geert
Kooy, Frank
van den Ende, Janneke
Devriendt, Koenraad
Fryns, Jean-Pierre
Speleman, Frank
Vermeesch, Joris #
Issue Date: Oct-2007
Series Title: Human Mutation vol:28 issue:10 pages:958-967
Abstract: Subtelomeric imbalances are identified in approximately 5% of patients with idiopathic mental retardation (MR) and multiple congenital anomalies (MCA). Because of this high incidence, screening for subtelomeric anomalies became part of the routine genetic evaluation of MCA/MR patients. In contrast to the general view that subtelomeric imbalances cause MCA/MR, we report here 15 subtelomeric copy-number changes in 12 families in which the imbalance is inherited from a phenotypically normal parent. We detected inherited deletions at subtelomeres 2q, 3p, 4p, 4q, 6q, 10q, 17p, 17q, Xp, and Yq and duplications at 1q, 4q, 10q, and 11q. Interestingly, in addition to small deletions (<1 Mb) also unexpected large deletions and duplications up to 7.8 Mb were detected. Taken together with previous reports, a total of 16 subtelomeric duplications and 18 deletions inherited from a phenotypically normal parent have now been reported. Clearly, more extensive genotype-phenotype correlations are needed to better understand the phenotypic consequences of these subtelomeric copy number variations and to resolve the current uncertainty for genetic counseling in postnatal and prenatal diagnosis.
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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