First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes.
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.
Dallapiccola
B
B
Department of Public Health and Cell Biology, IInd University of Rome, Italy.
Ferranti
G
G
Altissimi
D
D
Colloridi
F
F
Paesano
R
R
D002875:Chromosomes; D003241:Consanguinity; D005260:Female; D006720:Homozygote; D006801:Humans; D007621:Karyotyping; D010375:Pedigree; D011247:Pregnancy; D011256:Pregnancy Outcome; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic