First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes |
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| Authors: | Professor B Dallapiccola G Ferranti D Altissimi F Colloridi R Paesano |
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| Institution: | Prenatal Diagnosis Centre, Department of Obstetrics and Gynaecology, ‘La Sapienza’ University, Rome, Italy |
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| 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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| Keywords: | Robertsonian translocation Chorionic villi Homozygosity Consanguinity |
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