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COMPLEX REARRANGEMENTS OF CHROMOSOME 15 IN TWO PATIENTS WITH MILD/ATYPICAL PRADER WILLI SYNDROME
- Article from:
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Genetic Counseling
- Article date:
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April 1, 2008
- Author:
- Salavoura, K; Kolialexi, A; Sofocleous, C; Kalaitzidaki, M; Pampanos, A; Kitsiou, S; Mavrou, A
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Copyright informationCopyright Ãditions Médecine et Hygiène 2008. Provided by ProQuest LLC. (Hide copyright information)
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Summary: Complex rearrangements of chromosome 15 in two patients with MILD/ATYPICAL Prader Willi syndrome: Multiple mechanisms are responsible for the development of Prader Willi syndrome (PWS), the most common genetic cause of obesity in childhood. Molecular findings are usually deletions and uniparental disomy (UPD) of the 15q11-13 region. Rarely, structural rearrangements of the pericentromeric region of chromosome 15 are also detected. Two cases with mild PWS phenotype and complex maternal UPD identified by microsatellite analysis are described: the first patient had uniparental iso and heterodisomy and the second displayed biallelic inheritance and uniparental isodisomy.
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January 6, 1999 ;
254 words
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December 3, 2005 ;
KIDSON, Sally;
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96 words
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The People (London, England);
April 26, 1998 ;
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787 words
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IF I DIDN'T STOP SIOBHAN SHE'D EAT UNTIL SHE DIED; RTE star tells of his...
The Mirror (London, England);
March 10, 1999 ;
Yates, Nathan;
583 words
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Birmingham Evening Mail (England);
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787 words
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Daily Record (Glasgow, Scotland);
July 30, 1998 ;
103 words
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Evening Mail;
October 8, 1998 ;
96 words
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Fireman's marathon for tragic brother
Evening News - Scotland;
April 12, 2001 ;
137 words
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Genetic Counseling;
January 1, 2007 ;
Van Borsel, J; Defloor, T; Curfs, L M G;
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Clinical Chemistry;
June 1, 2006 ;
White, Helen E; Durston, Victoria J; Harvey, John F; Cross, Nicholas C P;
787 words
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Evansville Courier & Press (2007-Current);
September 3, 2007 ;
GAVIN LESNICK, Courier & Press staff writer 464-7449 or lesnickg@courierpress.com;
722 words
......with a rare genetic condition called Prader-Willi Syndrome that affects her appetite and...that affords few treats, Mickey and Prader-Willi sufferers like her can literally eat...money for research and to build a local Prader- Willi group home - she's thinking of both...
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Methylation-Sensitive High-Resolution Melting-Curve Analysis of the SNRPN...
Clinical Chemistry;
November 1, 2007 ;
White, Helen E; Hall, Victoria J; Cross, Nicholas C P;
787 words
...Background: Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are 2 distinct neurodevelopmental disorders...PWS either by paternal deletion (approximately 70%) or maternal uniparental disomy (UPD) (approximately 25%). Most cases of AS result...Association for Clinical Chemistry Angelman syndrome ...
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Regional Cerebral Glucose Metabolic Abnormality in Prader-Willi Syndrome:...
The Journal of Nuclear Medicine;
July 1, 2006 ;
Kim, Sang Eun; Jin, Dong-Kyu; Cho, Sang Soo; Kim, Ji-Hae; Et al;
787 words
...Prader-Willi syndrome (PWS) is a genetic disorder caused by the...and psychobehavioral problems of PWS. Key Words: Prader-Willi syndrome; glucose metabolism; PET: eating behavior...obsessive-compulsive behavior J Nucl Med 2006; 47:1088-1092 Prader-Willi syndrome (PWS). the most common ...
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American Family Physician;
September 1, 2005 ;
Wattendorf, Daniel J. Muenke, Miximilian;
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......they might require in the future. This review discusses Prader-Willi syndrome. (Am Fam Physician 2005;72:827-30. Copyright[C] 2005 American Academy of Family Physicians.) Prader-Willi syndrome (PWS), a genetic disorder that usually involves...region from the mother. The latter situation is called ...
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