The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction

American Journal of Human Genetics

Volumn 58, Issue 5, 1996, Pages 1008-1016

  Toth Fejel, Suellen ^a   Olson, Susan ^a   Gunter, Kristine ^a   Quan, Franklin ^a   Wolford, Jan ^a   Popovich, Bradley W ^a   Ellen Magenis, R ^a  

^a CDRC 2251 ^*

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PERPHENAZINE;

ADULT; ALLELE; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 15Q; CHROMOSOME BAND; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 14; CHROMOSOME TRANSLOCATION 15; CYTOGENETICS; DISOMY; DYSTONIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENETIC RECOMBINATION; GENOME IMPRINTING; HUMAN; HUMAN CELL; MALE; METHYLATION; NONDISJUNCTION; POLYMERASE CHAIN REACTION; PRADER WILLI SYNDROME; PRIORITY JOURNAL;

ADULT; CHILD; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; GENOMIC IMPRINTING; HUMANS; MALE; POLYMORPHISM, GENETIC; PRADER-WILLI SYNDROME; RECOMBINATION, GENETIC; TRANSLOCATION, GENETIC;

EID: 0029966577     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Brown KE, Barnett MA, Burgtorf C, Shaw P, Buckle VJ, Brown WRA (1994) Dissecting the centromere of the human Y chromosome with cloned telomeric DNA. Hum Mol Genet 3:1227-1237
2. Butler MG, Palmer CG (1983) Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet 1:1285-1286
3. Caspersson T, Zech L, Johansson C, Modest EJ (1970) Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma 30:215-217
4. Cattanach BM, Moseley H (1973) Nondisjunction and reduced fertility caused by the tobacco mouse metacentric chromosomes. Cytogenet Cell Genet 12:282-287
5. Donlon TA, LaLande M, Wyman A, Bruns G, Latt SA (1986) Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome. Proc Natl Acad Sci USA 83:4408-4412