Jumping translocation with partial duplications and triplications of chromosomes 7 and 15

Clinical Genetics
T JewettM J Pettenati

Abstract

We report a 2-year-old female with seizures, mild dysmorphic features and a jumping translocation involving chromosome 15 that results in multiple cell lines with partial duplications and triplications of chromosomes 7 and 15. Fluorescent in situ hybridization (FISH) and chromosome microdissection were used to identify the complex nature of the jumping translocation. Interstitial telomeres were observed at the jumping translocation sites. The jumping chromosome rearrangement was also found to have a partial duplication of 7p as demonstrated by chromosome microdissection. Despite these partial duplications and triplications of chromosomes 7 and 15, the child does not have major birth defects. She does have mild sensorimotor delays. A review of non-Robertsonian jumping translocations is provided.

References

Nov 1, 1990·American Journal of Medical Genetics·H RiveraL Gargantini
Jul 1, 1989·American Journal of Medical Genetics·J M MilunskyA Milunsky
Dec 1, 1987·American Journal of Medical Genetics·F GreenbergD H Ledbetter
Mar 1, 1986·Jinrui idengaku zasshi. The Japanese journal of human genetics·S A Al-AwadiT S Sundareshan
Aug 15, 1994·American Journal of Medical Genetics·E DuvalF Speleman
Jul 1, 1993·American Journal of Medical Genetics·S A FarrellV D Markovic
Mar 1, 1996·Clinical Genetics·C L von BallestremE Schwinger
May 1, 1997·Journal of Medical Genetics·K DevriendtJ P Fryns

❮ Previous
Next ❯

Citations

Dec 13, 2000·Molecular and Cellular Biology·A E KilburnJ H Wilson
Jun 19, 2008·Prenatal Diagnosis·Sandra Edwards, Jonathan J Waters
Nov 22, 2013·American Journal of Medical Genetics. Part a·Louise CareyDon A Leigh
Jul 9, 1999·American Journal of Medical Genetics·H RiveraJ A Crolla
Jul 22, 2004·American Journal of Medical Genetics. Part a·L ZahedI Salti
Jun 24, 2008·Indian Journal of Pediatrics·Gopalrao V N VelagaletiLillian H Lockhart
Apr 9, 2002·European Journal of Human Genetics : EJHG·Cécile Mignon-RavixMarie-Geneviève Mattei
Oct 28, 2010·American Journal of Medical Genetics. Part a·Kavita S Reddy
Apr 21, 2007·Genes, Chromosomes & Cancer·Roland Berger, Olivier A Bernard
Oct 9, 2007·Mutation Research·Kah Wai Lin, Ju Yan

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.