Diagnosis of a complex chromosomal rearrangement using fluorescent in situ hybridisation.
We report the use of fluorescent in situ hybridisation (FISH) to clarify a complex chromosomal rearrangement (CCR) carried by a woman presenting with recurrent miscarriages. CCRs are rare cytogenetic rearrangements involving three or more chromosomes, which can be difficult to interpret using routine cytogenetic studies with GTG banding. FISH was used to establish a correct interpretation of the maternal karyotype before amniocentesis in a present pregnancy.
Wallerstein
R
R
Division of Medical Geńetics, Jefferson Medical College of Thomas Jefferson University, Philadelphia, PA 19107-5563, USA.
Gibas
L
L
Anderson
C E
CE
Jackson
L
L
D000026:Abortion, Habitual / Q000235:genetics; D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D011247:Pregnancy