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Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19

✍ Scribed by Cotter, Philip D.; McCurdy, Leslie D.; Gershin, Irina F.; Babu, Arvind; Willner, Judith P.; Desnick, Robert J.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 15 KB
Volume: 71
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970822)71:3<325::aid-ajmg13>3.0.co;2-m

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✦ Synopsis

A tandem duplication of the distal long arm of chromosome 19 was identified in a 10 week fetus by analysis of chorionic villi. The fetal karyotype from two primary cultures was 46,XY,dir dup(19)(q13.2q13.4). The origin of the extra material was confirmed by fluorescence in situ hybridization using a chromosome 19 whole chromosome probe. Parental chromosomes were normal, indicating a de novo origin of the extra chromosome material. This is the first case of dup(19q) detected by prenatal diagnosis. Molecular studies demonstrated that the duplication involved a maternal chromosome 19. Am.

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