Imprinting centre deletions in two PWS families: Implications for diagnostic testing and genetic counselling

Clinical Genetics

Volumn 58, Issue 4, 2000, Pages 284-290

  Buiting, K ^a   Farber C ^a   Kroisel, P ^b   Wagner, K ^b   Brueton, L ^c   Robertson, M E ^c   Lich, C ^a   Horsthemke, B ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b MEDICAL UNIVERSITY OF GRAZ   (Austria)

^c NATIONAL HEALTH SERVICE   (United Kingdom)

Author keywords

Genetic counselling; Genomic imprinting; Imprinting mutation; Prader; Willi syndrome

Indexed keywords

DNA;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 15; CHROMOSOME DELETION; DIAGNOSTIC TEST; FEMALE; GENETIC COUNSELING; GENETIC RISK; GENOME IMPRINTING; GERM LINE; HETEROZYGOTE; HUMAN; INHERITANCE; PRADER WILLI SYNDROME; PRIORITY JOURNAL;

ALLELES; BLOTTING, SOUTHERN; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 15; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENE DELETION; GENETIC COUNSELING; GENOMIC IMPRINTING; GERM-LINE MUTATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MODELS, GENETIC; PEDIGREE; POLYMERASE CHAIN REACTION; PRADER-WILLI SYNDROME; RISK FACTORS;

EID: 0033819865     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.580406.x     Document Type: Article

References (12)

1. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
2. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
3. Inherited microdeletions in the Angelman and Prader - Willi syndromes define an imprinting centre on human chromosome 15
4. Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations
5. Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation
6. Imprinting mutation mechanisms in Prader - Willi syndrome
7. Angelman syndrome: How many genes to remain silent?
8. Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counselling, and prenatal diagnosis
9. A single tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus
10. Human cytogenetics: A practical approach
11. A 28 kb deletion spanning D15S63 (PW71) in five families: A rare neutral variant?
12. Different mechanisms and recurrence risk of imprinting defects in Angelman syndrome