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  • Title: First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes.
    Author: Dallapiccola B, Ferranti G, Altissimi D, Colloridi F, Paesano R.
    Journal: Prenat Diagn; 1989 Aug; 9(8):555-8. PubMed ID: 2798341.
    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 features.
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