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Molecular Analysis of an Extra inv dup(15)(q13) Chromosome in Two Patients with Angelman Syndrome

Published online by Cambridge University Press:  01 August 2014

T. Buchholz ,
S. Schuffenhauer ,
K. Evans ,
L. Robson ,
B. Appleton  and
A. Smith
T. Buchholz
Affiliation:
Abteilung für pädiatrische Genetik, Ludwig-Maximilians Universität München, Germany
S. Schuffenhauer
Affiliation:
Abteilung für pädiatrische Genetik, Ludwig-Maximilians Universität München, Germany
K. Evans
Affiliation:
Queensland Medical Laboratory, Australia
L. Robson
Affiliation:
Cytogenetics Unit, Children's Hospital, Camperdown, NSW, Australia
B. Appleton
Affiliation:
Department of Paediatrics, Children's Hospital, Brisbane, Australia
A. Smith*
Affiliation:
Cytogenetics Unit, Children's Hospital, Camperdown, NSW, Australia
*
RAHC-The Children's Hospital, Pyrmont Bridge Road, Camperdown NSW 2050, Australia

Extract

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Angelman syndrome (AS) is caused by the loss of function of yet unidentified gene(s) which map within 15q 11-13 and show monoallelic expression from the maternal allele. Lack of the maternal allele(s), due to either a deletion on the maternal chromosome 15 (about 70% of AS patients) or a paternal uniparental disomy (UPD)15 (<5%), are the most common molecular defects in AS. Prader-Willi syndrome (PWS) also maps to proximal 15q, but is caused by the loss of function of paternally expressed gen(s) [1]. Here we describe clinical, cytogenetic and molecular data for two non-related patients with AS who carry a nonmosaic extra cromosome inv dup(15).

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 45 , Issue 1-2 , April 1996 , pp. 217 - 220
Copyright
Copyright © The International Society for Twin Studies 1996

References

REFERENCES

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