Journal article
Maternal Uniparental Isodisomy of Human Chromosome 14 Associated with a Paternal t(13q14q) and Precocious Puberty
Abstract
Cytogenetic and molecular investigation of a boy with precocious puberty and motor developmental delay revealed a 45,XY,t(14q14q) or i(14q) karyotype with no paternal chromosome 14 contribution. VNTR analysis of loci on four other chromosomes excluded non-paternity with greater than 99% confidence. Results of VNTR and CA repeat analyses of ten loci along the entire length of chromosome 14 were consistent with homozygosity at all loci, …
Authors
Tomkins DJ; Roux AF; Waye J; Freeman VC; Cox DW; Whelan DT
Journal
European Journal of Human Genetics, Vol. 4, No. 3, pp. 153–159
Publisher
Springer Nature
Publication Date
1996
DOI
10.1159/000472189
ISSN
1018-4813