A complex chromosome rearrangement with at least five breakpoints studied by fluorescence in situ hybridization

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. -->
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970211)68:4<417::aid-ajmg9>3.0.co;2-i
Přístupová URL adresa: https://explore.openaire.eu/search/publication?articleId=doi_________::a1272236ab2ffe808521477480e17ac7
https://doi.org/10.1002/(sici)1096-8628(19970211)68:4<417::aid-ajmg9>3.0.co;2-i
Rights: CLOSED
Přírůstkové číslo: edsair.doi...........a1272236ab2ffe808521477480e17ac7
Autor: Teresa L. Yang-Feng, Lisa H. Gibson, James L. McGrath
Rok vydání: 1997
Předmět:
Zdroj: American Journal of Medical Genetics. 68:417-420
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970211)68:4<417::aid-ajmg9>3.0.co;2-i
Popis: 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.
Databáze: OpenAIRE
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