Abstract
The chromosome region 15q11q13 is known for its instability, and many rearrangements
may occur in this imprinted segment: deletions associated either with Angelman syndrome
(AS) or with Prader-Willi syndrome (PWS), according to parental origin; translocations;
inversions; and supernumerary marker chromosomes formed by the inverted duplication
of proximal chromosome 15. Inv dup(15) constitute the most common of the heterogeneous
group of the extra structurally abnormal chromosomes, and their presence results in
tetrasomy 15p and partial tetrasomy 15q. Inv dup(15), containing the Prader-Willi/Angelman
syndrome region, are associated with altered behaviour, developmental delay/mental
retardation, and seizures/epilepsy. Clinicians should suspect this syndrome in any
infant/child with early central hypotonia, minor dysmorphic features, developmental
delay, autism or autistic-like behaviour, and who subsequently develops hard to control
seizures/epilepsy. Diagnosis is confirmed by standard cytogenetic techniques and FISH
analysis. Although, about 100 cases have been reported to date, limited data are available
on the natural history. To obtain better information on diagnosis and outcome in a
clinical setting, we reviewed the available literature on clinical and behavioural
phenotype of inv dup(15) syndrome.
Keywords
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Article info
Publication history
Accepted:
August 10,
2004
Received in revised form:
August 5,
2004
Received:
October 20,
2003
Footnotes
☆The paper is based on the lecture given at the Sixth 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.
