Prenatal diagnosis of trisomy for the distal two‐thirds of the long arm of chromosome 14 (q21→qter)
- 1 April 1990
- journal article
- case report
- Published by Wiley in Prenatal Diagnosis
- Vol. 10 (4) , 261-264
- https://doi.org/10.1002/pd.1970100409
Abstract
A de novo case of ‘pure’ trisomy 14q21 → qter is described which was detected at amniocentesis following an abnormal ultrasound scan of a 25–year‐old woman. This is apparently the largest distal 14q duplication reported in a case surviving beyond the first trimester. The infant apipeared to have an association of clinical abnormalities previously observed in distal 14q trisomy and proximal 14q trisomy/mosaic trisomy 14.Keywords
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