Trisomy 1 mosaicism only detected on a direct chromosome preparation in a neonate
- 1 December 1995
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 48 (6) , 313-316
- https://doi.org/10.1111/j.1399-0004.1995.tb04116.x
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.Keywords
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