Prenatal diagnosis of trisomy for the distal two-thirds of the long arm of chromosome 14 (q21----qter).
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.
Duckett
D P
DP
Department of Cytogenetics, Leicester Royal Infirmary, U.K.
Roberts
E
E
McKeever
P
P
Young
I D
ID
D000328:Adult; D000649:Amniocentesis; D002883:Chromosomes, Human, Pair 14 / Q000648:ultrastructure*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy