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Fragile X syndrome
Author(s) -
Terracciano Alessandra,
Chiurazzi Pietro,
Neri Giovanni
Publication year - 2005
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.30062
Subject(s) - fragile x syndrome , fragile x , fmr1 , growth retardation , medicine , psychology , genetics , psychiatry , gene , biology , pregnancy
Abstract Fragile X syndrome, the most common genetic disorder associated with mental retardation is caused by an expansion of the unstable CGG repeat within the FMR1 gene. Although overgrowth is not the main hallmark of this condition, the fragile X syndrome is usually included in the differential diagnosis of children with mental retardation and excess growth. This review highlights the most recent advances in the field of fragile X research. © 2005 Wiley‐Liss, Inc.