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Prenatal Exclusion of Segmental Trisomy in Familial Chromosome 21 Pericentric Inversion by Fluorescence in situ Hybridization

✍ Scribed by Erika P. Tardy; András Tóth; György Kosztolányi

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
58 KB
Volume
17
Category
Article
ISSN
0197-3851

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✦ Synopsis

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.

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