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- W4238587531 abstract "A newborn infant with multiple congenital anomalies was diagnosed with an unbalanced translocation of chromosomes 1 and 5. Studies of parental chromosomes revealed a complex rearrangement in the patient's mother involving the exchange of terminal long arms between chromosomes 1 and 5 and the insertion of an interstitial segment from the same chromosome 5q into chromosome 2q by high-resolution G-banding. Further study of the mother's chromosomes by fluorescent in situ hybridization (FISH) detected an additional insertion between the rearranged chromosomes 2 and 5, which was not revealed by G-banding. This led to the identification of a complex translocation-insertion between 3 chromosomes with at least 5 breaks [t(1;5;2)(1pter→1q42.3::5q23.2→5qter;5pter→5q21.2::2q33→2q35::1q42.3→1qter;2pter→2q33::5q21.2→5q23.2::2q35→2qter)] and illustrates the value of FISH as an adjunct to standard cytogenetics, particularly in cases of complex rearrangements. Am. J. Med. Genet. 68:417–420, 1997. © 1997 Wiley-Liss, Inc." @default.
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- W4238587531 date "1997-02-11" @default.
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- W4238587531 title "A complex chromosome rearrangement with at least five breakpoints studied by fluorescence in situ hybridization" @default.
- W4238587531 doi "https://doi.org/10.1002/(sici)1096-8628(19970211)68:4<417::aid-ajmg9>3.3.co;2-y" @default.
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