Title
Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
Copenhagen ,
Subject
Human medicine
Source (journal)
Clinical genetics. - Copenhagen
Volume/pages
44(1993) :5 , p. 262-269
ISSN
0009-9163
ISI
A1993MM21100008
Carrier
E
Target language
English (eng)
Affiliation
University of Antwerp
Abstract
We report the prenatal diagnosis of a karyotype 46,XY,rec(6)dup p, inv(6) (p23q27) mat detected by fluorescence in situ hybridization using chromosome 6pter and 6qter specific DNA markers. This partial duplication-deletion (6p12-->pter; 6q27-->qter) emanated from a balanced pericentric inversion 46,XX inv(6) (p23q27)pat present in the mother. The phenotypes of two relatives with the same unbalanced anomaly are described. This report illustrates the sensitivity and specificity of fluorescence in situ hybridization (FISH) and its benefit in rapid and unequivocal prenatal diagnosis of subtle chromosomal rearrangements.
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