Abstract
Monosomy 1p36 is a recently delineated contiguous gene syndrome, which is now considered
to be the most common subtelomeric microdeletion syndrome. From the recent literature
it appears as if 1p36 deletions account for 0.5–1.2% of idiopathic mental retardation.
The deletions can be detected by high resolution cytogenetic studies in a minority
of patients, and fluorescence in situ hybridisation (FISH) is required in most. The
deletions' parent of origin seems still unclear, although in one large series it was
shown to be maternal. 1p36 deletion syndrome is characterized by distinct craniofacial
features, associated with developmental delay/mental retardation, hypotonia, muscle
hypotrophy, seizures, brain abnormalities, and heart defects. To help child neurologists
and other professionals in the recognition of this emerging and common chromosomal
syndrome, we have reviewed published articles on patients with this deletion.
Keywords
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Article info
Publication history
Accepted:
March 31,
2004
Received in revised form:
March 15,
2004
Received:
October 20,
2003
Footnotes
☆The paper is based on the lecture given at the 6th Annual Meeting of The Infantile Seizure Society, Tokyo, March 15–16, 2003.
Identification
Copyright
© 2005 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
