Diagnostic testing for prader-willi and angelman syndromes: report of the ashg/acmg test and technology transfer committee

American Journal of Human Genetics

Volumn 58, Issue 5, 1996, Pages 1085-1088

  Cassidy, Suzanne B ^a  

^a CASE WESTERN RESERVE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; SMALL NUCLEAR RIBONUCLEOPROTEIN;

ALLELE; AMNIOCENTESIS; CHORION VILLUS SAMPLING; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; DIAGNOSTIC TEST; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HAPPY PUPPET SYNDROME; HUMAN; METHYLATION; POLYMERASE CHAIN REACTION; PRADER WILLI SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SOUTHERN BLOTTING; TRISOMY;

ANGELMAN SYNDROME; DNA; HUMANS; PRADER-WILLI SYNDROME;

EID: 0029867499     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Buiting K, Saitoh S, Gross S, Dietrich B, Schwartz S, Nicholls RD, Horsthemke B (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9:395-400
2. Delach JA, Rosengren SS, Kaplan L, Greenstein RM, Cassidy SB, Benn PA (1994) Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome. Am J Med Genet 52:85-91
3. Gillessen-Kaesbach G, Gross S, Kaya-Westerloh S, Passarge E, Horsthemke B (1995) DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. J Med Genet 32:88-92
4. Glenn CC, Porter KA, Jong MTC, Nicholls RD, Driscoll DJ (1993) Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet 2:2001-2005
5. Kuwano A, Mutirangura A, Dittrich B, Buiting K, Horsthemke B, Saitoh S, Niikawa N, et al (1992) Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet 1:417-425