Publication: Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting
Issued Date
1996-06-14
Resource Type
ISSN
01487299
Other identifier(s)
2-s2.0-0029950243
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
American Journal of Medical Genetics. Vol.63, No.3 (1996), 468-471
Suggested Citation
Katia Édni F De Albuquerque Coêlho, Masayuki Egashira, Rumiko Kato, Masahiro Fujimoto, Naomichi Matsumoto, Budsaba Rerkamnuaychoke, Kyohko Abe, Naoki Harada, Hirofumi Ohashi, Yoshimitsu Fukushima, Norio Niikawa Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting. American Journal of Medical Genetics. Vol.63, No.3 (1996), 468-471. doi:10.1002/(SICI)1096-8628(19960614)63:3<468::AID-AJMG10>3.0.CO;2-K Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/17728
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting
Abstract
A molecular cytogenetic method consisting of chromosome microdissection and subsequent reverse/forward chromosome painting is a powerful tool to identify chromosome abnormalities of unknown origin. We present 4 cases of chromosome structural abnormalities whose origins were ascertained by this method. In one MCA/MR patient with an add(5q)chromosome, fluorescence in situ hybridization (FISH), using probes generated from a microdissected additional segment of the add(5q) chromosome and then from a distal region of normal chromosome 5, confirmed that the patient had a tandem duplication for a 5q35- qter segment. Similarly, we ascertained that an additional segment of an add(3p) chromosome in another MCA/MR patient had been derived from a 7q32- qter segment. In a woman with a history of successive spontaneous abortions and with a minute marker chromosome, painting using microdissected probes from the whole marker chromosome revealed that it was i(15)(p10) or psu dic(15;15)(q11;q11). Likewise, a marker observed in a fetus was a ring chromosome derived from the paracentromeric region of chromosome 19. We emphasize the value of the microdissection-based chromosome painting method in the identification of unknown chromosomes, especially for marker chromosomes. The method may contribute to a collection of data among patients with similar or identical chromosome abnormalities, which may lead to a better clinical syndrome delineation.