Two inv dup(15) chromosomes in a woman with repeated abortions

Citation
Sh. Shim et al., Two inv dup(15) chromosomes in a woman with repeated abortions, AM J MED G, 104(4), 2001, pp. 303-306
Citations number
13
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
0148-7299 → ACNP
Volume
104
Issue
4
Year of publication
2001
Pages
303 - 306
Database
ISI
SICI code
0148-7299(200112)104:4<303:TIDCIA>2.0.ZU;2-C
Abstract
A 40-year-old, phenotypically normal woman, with a history of two repeated abortions and no child, had two additional, small, bisatel-lited, and appar ently metacentric chromosomes. Various banding and microsatellite analyses indicated that the additional chromosomes were inv dup(15)(q11q11) without the Prader-Willi/Angelman syndromes critical region, and therefore without phenotypic effects. Her father had a single, identical additional inv dup(1 5) chromosome. Her husband was chromosomally normal, but sperm analysis ind icated a reduced motility and a reduced frequency of morphologically normal sperm. In view of these findings, it was deduced that the inv dup(15) chro mosome in the father was transmitted in duplicate to the woman. Individuals with two additional inv dup(15) chromosomes in the literature were reviewe d, and possible correlation of the two additional inv dup(15) chromosomes i n the woman and her repeated abortions was discussed. (C) 2001 Wiley-Liss, Inc.