Trisomy 1 mosaicism only detected on a direct chromosome preparation in a neonate |
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| Authors: | P. J. Howard C. E. Cramp A. E. Fryer |
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| Affiliation: | Department of Cytogenetics and Clinical Genetics, Royal Liverpool University Hospital;Development of Paediatrics, Whiston Hospital, UK |
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| Abstract: | A patient is described with trisomy 1 mosaicism which was discovered on 24-h culture of a neonatal blood sample, but was not detectable on subsequent 48- and 72-h cultures. This result complements other recent reports and has important implications for the detection of mosaicism in neonates. |
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| Keywords: | aneuploidy direct karyotyping neonates trisomy 1 mosaicism |
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