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Molecular cytogenetic analysis of a familial pericentric inversion of chromosome 12
Author(s) -
Speleman Frank,
Roy Nadine,
Vos Eric De,
Hilliker Carl,
Suijkerbuijk Ron F. S.,
Leroy Juies G.
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb03869.x
Subject(s) - chromosomal inversion , genetics , biology , fluorescence in situ hybridization , chromosome 9 , karyotype , chromosome , chromosome 4 , chromosome 12 , chromosome 22 , chromosome 21 , chromosome 18 , chromosome 3 , microbiology and biotechnology , gene
Speleman F, Van Roy N, De Vos E, Hilliker C, Suijkerbuijk RFS, Leroy JG. Molecular cytogenetic analysis of a familial pericentric inversion of chromosome 12 Clin Genet 1993: 44: 156–163. © Munksgaard, 1993 We describe the application of multi‐color fluorescence in situ hybridization (FISH) in the characterization of a familial pericentric inversion. Using chromosome 12 short‐ and long‐arm specific DNA probes, fast and reliable discrimination between normal and inversion chromosome 12 or recombinant inversion chromosome 12 was possible. FISH thus provides a reliable means for prenatal detection of balanced or unbalanced chromosome 12 rearrangements in this family. This approach is possible for identification of similar chromosome rearrangements provided that probes for the putatively involved chromosome region are available.