Familial cryptic translocation resulting in Angelman syndrome: Implications for imprinting or location of the Angelman gene?

American Journal of Human Genetics

Volumn 58, Issue 4, 1996, Pages 777-784

  Burke, Leah W ^a   Wiley, John E ^b   Glenn, Christopher C ^b   Driscoll, Daniel J ^b   Loud, Kenneth M ^b   Smith, April J W ^b   Kushnick, Theodore ^b  

^a ASRI   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CASE REPORT; CHROMOSOME 14; CHROMOSOME 15Q; CHROMOSOME G BAND; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; DNA METHYLATION; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE LOCATION; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; PRIORITY JOURNAL; SCHOOL CHILD;

ANGELMAN SYNDROME; AUTOANTIGENS; CHILD; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 15; DNA; DNA PROBES; FEMALE; GENOMIC IMPRINTING; HUMANS; METHYLATION; RIBONUCLEOPROTEINS, SMALL NUCLEAR; TRANSLOCATION, GENETIC;

EID: 0029868661     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Angelman H (1965) "Puppet" children: a report on three cases. Dev Med Child Neurol 7:681-683
2. Boyd SG, Harden A, Patton MA (1988) The EEG in early diagnosis of the Angelman (happy puppet) syndrome. Eur J Pediatr 147:508-513
3. Buiting K, Saitoh S, Gross S, Dittrich 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. Nature Genet 9:395-400
4. Butler MG, Palmer CG (1983) Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet 2:1285-1286
5. Buxton JL, Chan CJ, Gilbert H, Clayton-Smith J, Burn J, Pembrey M, Malcolm S (1994) Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb. Hum Mol Genet 3:1409-1413