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Prenatal Exclusion of Segmental Trisomy in Familial Chromosome 21 Pericentric Inversion by Fluorescence in situ Hybridization
Author(s) -
Tardy Erika P.,
Tóth András,
Kosztolányi György
Publication year - 1997
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199709)17:9<871::aid-pd140>3.0.co;2-3
Subject(s) - chromosomal inversion , trisomy , fluorescence in situ hybridization , chorionic villus sampling , biology , chromosome 21 , aneuploidy , prenatal diagnosis , genetics , karyotype , dup , chromosome , fetus , pregnancy , gene duplication , gene
We report the prenatal exclusion of partial trisomy in a family with maternal pericentric inversion of chromosome 21 by fluorescence in situ hybridization (FISH). After determining the structural rearrangement in the mother and her affected son with 46,XY,rec(21)dup(21q)inv(21)(p11q22) resulting in Down syndrome (DS), a chorionic villus sample from the current pregnancy was analysed for the copy number of the DS critical region with a cosmid contig. The signal distribution was normal and the cytogenetic analysis revealed that the fetus had inherited the inverted chromosome 21 in a balanced form. FISH probes specific for the DS region are of great value in supporting cytogenetic results, regardless of the structural status of chromosome 21. © 1997 John Wiley & Sons, Ltd.