Prenatal detection of a de novo duplication of the long arm of chromosome 7 |
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Authors: | P J Howard |
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Institution: | Regional Cytogenetics Unit, Royal Liverpool Hospital, PO Box 147, Liverpool L69 3BX. U.K |
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Abstract: | Amniocentesis was performed for maternal age and subsequent cytogenetic studies revealed a male fetus with a mosaic karyotype, one cell line having a duplication for the long arm of chromosome 7. The pregnancy was terminated and the two cell lines confirmed in varying proportions in the fetal tissues. External examination of the fetus revealed only growth retardation and a high forehead. The lack of phenotypic defects and the possible aetiology of the de novo rearrangement are considered. |
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Keywords: | Prenatal diagnosis Duplication De novo Chromosome 7 |
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