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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Journal article published in 2006 by
Da A. Koolen,
Ag van Kessel,
Bb de Vries,
Nicole de Leeuw,
Le E. L. M. Vissers 
,
Rolph Pfundt,
N. de Leeuw,
Sj J. Knight,
Regina Regan,
de Nicole Leeuw,
R. Frank Kooy,
Edwin Reyniers,
R. Frank Kooy,
Corrado Romano ,
Marco Fichera
and other authors.
,
Rolph Pfundt,
N. de Leeuw,
Sj J. Knight,
Regina Regan,
de Nicole Leeuw,
R. Frank Kooy,
Edwin Reyniers,
R. Frank Kooy,
Corrado Romano ,
Marco Fichera
and other authors.
Abstract
Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.