PRADER-WILLI AND ANGELMAN SYNDROMES IN THE GREEK POPULATION: A CLINICAL AND MOLECULAR STUDY
Salavoura K*, Sofocleous C, Mavrou A, Kalaitzidaki M, Frysira H, Kolialexi A, Zafiriou D, Yapijakis C, Metaxotou E
*Corresponding Author: : Katerina Salavoura, MD, PhD, Department of Immunology and Histocompatibility, “Aghia Sophia” Children’s Hospital, Thivon and Papadiamantopoulou, Athens, Greece; Tel.: +30-210-7467766; Fax: +30-210-7757401; E-mail: Salavoura_Katerina@hotmail.com
page: 27

Abstract

Prader Willi syndrome (PWS) is a contiguous gene syndrome, which presents with obesity and variable clini­cal manifestations. The full phenotype is evident at the age of 3-5 years. Angelman syndrome (AS) is a single gene disorder with lack of speech and ataxic gait. The two syndromes share the same cytogenetic alterations (mainly deletions) in the chromosomal region 15q11-13, but differ in parental origin of the deletions, suggesting genomic imprinting of the area. Clinical evaluation and DNA anal­ysis was performed in 171 Greek patients referred for PWS and AS syndromes during the period 1994-2001. Forty out of 114 (35%) PWS cases and 32/57 (56%) of AS cases met the typical diagnostic criteria. DNA analysis confirmed the diagnosis in 39/114 (34%) PWS and 18/57 (32%) AS patients. Deletions were detected in 28/39 PWS patients, while 11/39 had uniparental disomy (UPD). Deletions were also detected in all 18 AS patients. Among the confirmed cases were a pair of twins with PWS and a pair of twins with AS. Reasons for PWS referrals are often insufficient and include mainly neonatal hypotonia, obe­sity and learning difficulties, leading to misdiagnosis of the syndrome. Although clinical presentation of AS seems more reliable, it is possible that the routine molecular analysis performed in the present study is not specific enough to confirm diagnosis in all AS cases.

Key words: Prader Willi syndrome (PWS); Angelman syndrome (AS); 15q11-13 deletions; Dinucleotide repeat polymorphism( DNRP) analysis; Fluorescent in situ hy­bridization (FISH) analysis; twin gestation.

__________________________________________________

Department of Medical Genetics, University of Athens Med­ical School, Aghia Sophia Children's Hospital, Athens, Greece




Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006