Prenatal diagnosis of trisomy for the distal two-thirds of the long arm of chromosome 14 (q21→qter)

Autor: P. McKeever, E. Roberts, I. D. Young, D. P. Duckett
Rok vydání: 1990
Předmět:
Zdroj: Prenatal Diagnosis. 10:261-264
ISSN: 1097-0223
0197-3851
Popis: 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 appeared to have an association of clinical abnormalities previously observed in distal 14q trisomy and proximal 14q trisomy/mosaic trisomy 14.
Databáze: OpenAIRE