PRENATAL DETECTION AND MOLECULAR CHARACTERIZATION OF A DE-NOVO DUPLICATION OF THE DISTAL LONG ARM OF CHROMOSOME-19

Authors
COTTER PD MCCURDY LD GERSHIN IF BABU A WILLNER JP DESNICK RJ
Citation
Pd. Cotter et al., PRENATAL DETECTION AND MOLECULAR CHARACTERIZATION OF A DE-NOVO DUPLICATION OF THE DISTAL LONG ARM OF CHROMOSOME-19, American journal of medical genetics, 71(3), 1997, pp. 325-328
Citations number
20
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
71
Issue
3
Year of publication
1997
Pages
325 - 328
Database
ISI
SICI code
0148-7299(1997)71:3<325:PDAMCO>2.0.ZU;2-O
Abstract
A tandem duplication of the distal long arm of chromosome 19 was ident ified in a 10 week fetus by analysis of chorionic villi. The fetal kar yotype from two primary cultures was 46,XY,dir dup(19)(q13.2q13.4). Th e origin of the extra material was confirmed by fluorescence in situ h ybridization using a chromosome 19 whole chromosome probe. Parental ch romosomes were normal, indicating a de novo origin of the extra chromo some material. This is the first case of dup(19q) detected by prenatal diagnosis. Molecular studies demonstrated that the duplication involv ed a maternal chromosome 19. (C) 1997 Wiley-Liss, Inc.