Prenatal diagnosis of a partial 8p |
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Authors: | Dr Trisomy A Pezzolo M P Bicocchi C Zampatti C Cuoco G Gimelli |
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Institution: | 1. Servizio di Genetica Molecolare, Laboralorio di Citogenetica, Istituto G. Gaslini, Geneva, Italy;2. Istituto di Anatomia e Istologia Palologica, Pavia, Italy |
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Abstract: | The index patient is a female fetus in which prenatal diagnosis of 8p trisomy was established after amniocentesis at 16 weeks of gestation. This fetus was the unbalanced product of a maternal translocation of 5q/8p (karyotype: 46,XX,t(5;8)(q35;pl 1). Internal malformations include an anomalous lobature of the right lung, a little and high atrio-ventricular communication, and an anomaly in the number and shape of the aortic semilunar valves. The possible relationship between the phenotype and the chromosomal abnormality is briefly discussed. |
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Keywords: | Partial 8p trisomy Amniocentesis Malformations |
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