A constitutional telomeric translocation showing meiotic instability.

Abstract

Constitutional telomeric translocations are rare chromosome rearrangements. They are thought to occur as a result of chromosome breakage and subsequent ligation with the telomeric sequence of a different chromosome. Most frequently they occur as de novo events and, depending on the donor chromosome breakpoint, may be associated with an abnormal phenotype. We report a case of an unbalanced translocation involving the long arm of chromosome 15 and the short arm of chromosome 8 [45,XY, der(8)t(8;15)(p23.3;q11.2),-15], diagnosed prenatally; the father carried an unbalanced translocation of the long arm of chromosome 15 and the short arm of chromosome 2 [45,XY,der(2)t(2;15)(p25.3;q11.2),-15]. Both translocations were shown to have telomere repeat sequences at the translocation breakpoints. There was no apparent imbalance of euchromatic material in either translocation, and no associated abnormal phenotype.

• Authors: D J Josifova, R Mazzaschi, T Ballard, C Mackie Ogilvie, M Splitt
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 140 Issue 11 Pg. 1228-33 (Jun 01 2006) ISSN: 1552-4825 [Print] United States
• PMID: 16688752 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2006 Wiley-Liss, Inc.

Topics

• Adult
• Chromosome Banding
• Chromosomes, Human, Pair 15 (genetics)
• Chromosomes, Human, Pair 2 (genetics)
• Chromosomes, Human, Pair 8 (genetics)
• Family Health
• Female
• Fetal Diseases (diagnosis, genetics)
• Humans
• In Situ Hybridization, Fluorescence
• Infant, Newborn
• Karyotyping
• Male
• Meiosis (genetics)
• Middle Aged
• Pregnancy
• Pregnancy Outcome
• Prenatal Diagnosis
• Telomere (genetics)
• Translocation, Genetic