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
First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes / Dallapiccola, B; Ferranti, G; Altissimi, D; Colloridi, F; Paesano, Rosalba. - In: PRENATAL DIAGNOSIS. - ISSN 0197-3851. - STAMPA. - (1989).
First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes
Colloridi F;PAESANO, Rosalba
1989
Abstract
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 featuresI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.