1: Prenat Diagn. 1989 Aug;9(8):555-8.Links

First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes.

Department of Public Health and Cell Biology, IInd University of Rome, Italy.

A (14;21) homozygous Robertsonian translocation was detected by first-trimester prenatal diagnosis. The related parents were heterozygous for the same translocation. At birth the baby was physically normal and had a normal psychomotor development. Together with a few previous observations in living homozygotes for (13;14) translocations, this case corroborates the idea that these subjects with 44 chromosomes are healthy without dysmorphic features.

PMID: 2798341 [PubMed - indexed for MEDLINE]

Turn off