title: 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: Genetic Centre, Guy's Hospital, London, United Kingdom.
authors: D J
authors: DJ
authors: Josifova
authors: R
authors: R
authors: Mazzaschi
authors: T
authors: T
authors: Ballard
authors: C Mackie
authors: CM
authors: Ogilvie
authors: M
authors: M
authors: Splitt