A clinical, cytogenetic and molecular study of 10 patients with the Prader-Willi syndrome;Estudio clínico, citogenético y molecular en 10 pacientes con síndrome de Prader-Willi

Medicina Clinica

Volumn 108, Issue 8, 1997, Pages 304-306

  Barabash, Ana ^a   Robledo, Mercedes ^a   Sanz, Raúl ^a   Renedo, Mónica ^a   Ramos, Carmen ^a   Ayuso, Carmen ^a   Benítez, Javier ^a  

^a Inst Nacional de Investig Agrarias   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MICROSATELLITE DNA;

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME BANDING PATTERN; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; HUMAN; INFANT; POLYMERASE CHAIN REACTION; PRADER WILLI SYNDROME; SOUTHERN BLOTTING;

ADOLESCENT; BLOTTING, SOUTHERN; CHILD; CHROMOSOME BANDING; DNA; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MICROSATELLITE REPEATS; POLYMERASE CHAIN REACTION; PRADER-WILLI SYNDROME;

EID: 0031085262     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY et al. Prader-Willi syndrome: consensus diagnostic criterial. Pediatrics 1993; 91: 398-402.
2. Mutirangura A, Jayakumar A, Sutcliffe JS, Nakao M, Mc Kinney MJ, Buiting K et al. A complete YAC conting of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics 1993; 18: 546-552.
3. Sutclitfe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DM et al. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet 1994; 8: 52-58.
4. Nicholls RD. Genomic imprinting and uniparental disomy in Angelman and Prader Willi syndromes: a review. Am J Med Genet 1993; 46: 16-25.
5. Dittrich B, Robinson WP, Knoblauch H, Buiting K, Schmidt K, Gillesen-Kaesbach G et al. Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent -of-origin specific DNA methylation in 15 q11-13. Hum Genet 1992; 90: 313-315.
6. Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G et al. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader- Willi syndromes. Am J Hum Genet 1994; 54: 741-747.
7. Watt JL, Stephen GS. Lymphocyte culture for chromosome analysis. En: Rooney DE, Czepulkowski BH, editores. Human cytogenetics. A practical approach. Oxford: IRL Press, 1986; 51-52.
8. Maniatis T, Fritsch E, Sambrook J. Molecular cloning. A laboratory manual. Nueva York: Cold Spring Harbor Laboratory Press, 1982.
9. Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A et al. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13) molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet 1993; 2: 143-151.
10. Glatt KA, Sinnet D, Lalande M. Dinucleotide repeat polymorphism at the GABA receptor a5 (GABRA5) locus at chromosome 15q11-q13. Hum Mol Genet 1992; 1: 348.
11. Van den Ouweland AMW, Van der Est MN, Wesby van Swaay E, Tijmensen TSLN, Los FJ, Van Hemel JO et al. DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63). Hum Genet 1995; 95: 562-567.
12. Kokkonen H, KähKönen M, Leisti J. A molecular and cytogenetic study in Finnish Prader-Willi patients. Hum Genet 1995; 95: 568-571.
13. Webb T, Clarke D, Hardy CA, Kilpatrick MW, Corbett J, Dahlitz M. A clinical, cytogenetic and molecular study of 40 adults with the Prader-Willi syndrome. J Med Genet 1995; 32: 181-185.