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A constitutional telomeric translocation showing meiotic instability
Author(s) -
Josifova D.J.,
Mazzaschi R.,
Ballard T.,
Ogilvie C. Mackie,
Splitt M.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31216
Subject(s) - chromosomal translocation , genetics , biology , chromosome , breakpoint , telomere , chromosomal rearrangement , chromosome 16 , homologous chromosome , chromosome 21 , microbiology and biotechnology , karyotype , dna , gene
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. © 2006 Wiley‐Liss, Inc.