| Literature DB >> 7241529 |
G Buchinger, A Wettstein, H Metze.
Abstract
A familial translocation t(3;18)(p21;p11) was observed in a newborn male. He had multiple malformations resulting from partial trisomy 3 and partial monosomy 18. The mother, maternal uncle, and maternal grandmother were found to be balanced translocation carriers. A daughter of the maternal uncle with similar malformations probably had the same unbalanced karyotype as the proband.Entities:
Mesh:
Year: 1981 PMID: 7241529 PMCID: PMC1048683 DOI: 10.1136/jmg.18.2.119
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318