Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty

European Journal of Human Genetics

Volumn 4, Issue 3, 1996, Pages 153-159

  Tomkins, Darrell J ^a  

^a MCMASTER UNIVERSITY   (Canada)

Author keywords

Chromosome 14; Genomic imprinting; Isodisomy; Precocious puberty; Uniparental disomy

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 13Q; CHROMOSOME 14; CHROMOSOME 14Q; CHROMOSOME ANALYSIS; DISOMY; FACE DYSMORPHIA; FATHER; GROWTH RETARDATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; ISOCHROMOSOME; LOW BIRTH WEIGHT; MALE; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; ROBERTSONIAN CHROMOSOME TRANSLOCATION; VARIABLE NUMBER OF TANDEM REPEAT;

EID: 0030016132     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000472189     Document Type: Article

References (2)

1. Engel E: A new genetic concept: Uniparental disomy and its potential effect, isodisomy. Am J Med Genet 1980;6:137-143.
2. Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL: Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 1988;42:217-226.