A constitutional telomeric translocation showing meiotic instability.
Am J Med Genet A
; 140(11): 1228-33, 2006 Jun 01.
Article
in En
| MEDLINE
| ID: mdl-16688752
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.
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Translocation, Genetic
/
Chromosomes, Human, Pair 8
/
Chromosomes, Human, Pair 15
/
Fetal Diseases
Type of study:
Diagnostic_studies
Limits:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
/
Newborn
/
Pregnancy
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2006
Document type:
Article
Affiliation country: