Inverted duplications: how many of them are mosaic?
- 21 July 2004
- journal article
- case report
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 12 (9) , 713-717
- https://doi.org/10.1038/sj.ejhg.5201240
Abstract
No abstract availableKeywords
This publication has 27 references indexed in Scilit:
- Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion eventJournal of Medical Genetics, 2003
- GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5Nature, 2003
- Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosisPrenatal Diagnosis, 2003
- Inv dup del (1)(pter?q44::q44?q42:) with the classical phenotype of trisomy 1q42-qterAmerican Journal of Medical Genetics, 2001
- The first three mosaic cri du chat syndrome patients with two rearranged cell linesJournal of Medical Genetics, 2000
- Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2qEuropean Journal of Human Genetics, 2000
- 18q− and 18q+ mosaicism in a mentally retarded boyAmerican Journal of Medical Genetics, 1994
- Molecular and cytogenetic characterization of 9p– abnormalitiesAmerican Journal of Medical Genetics, 1993
- Prenatal diagnosis of a case of 46,XY, 18p — /46,XY, 18p + mosaicismPrenatal Diagnosis, 1989
- Prenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype.Journal of Medical Genetics, 1986