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A case with dicentric translocation between chromosome 9 and 18: Confirmation by fluorescent in situ hybridization on metaphase spread
Author(s) -
ISOYAMA KEIICHI,
IMAI MITSURU,
ISHIKAWA AKIRA,
FUJITA KAZUHIRO,
SUTO YUMIKO,
SHINOHARA TAMIKO
Publication year - 1995
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1995.tb03698.x
Subject(s) - dicentric chromosome , medicine , metaphase , chromosomal translocation , fluorescence in situ hybridization , chromosome , in situ hybridization , in situ , fluorescence , microbiology and biotechnology , genetics , karyotype , gene , optics , biology , meteorology , gene expression , physics
A female child with dicentric translocation between chromosome 9 and chromosome 18 presented non‐specific minor anomalies with laryngomalacia. Chromosomal analyses were performed by the G‐banding method and a fluorescence in situ hybridization (FISH) technique with a specific probe for the centromeric region of chromosome 18 and the painting probe for the chromosomes 9 and 18. Her full karyotype was confirmed as 45, XX, tdic (9;18)(p24;p11). This is the first case of dicentric translocation between chromosomes 9 and 18. The FISH technique is an important tool in chromosome diagnostics.