[Molecular cytogenetic analysis for a familial complex chromosomal rearrangement].
OBJECTIVE
To determine a complex chromosomal rearrangement by advanced molecular cytogenetic techniques and analyze its clinical effect.


METHODS
A complex chromosomal rearrangement (CCR) involved in chromosomes 5, 16 and 20 in a 29-year-old male carrier was determined by chromosomal microdissection and multicolor fluorescence in situ hybridization (M-FISH), and family degree investigation was further performed.


RESULTS
The karyotype of the case was a complex chromosomal translocation among chromosomes 5, 20 and 16, and accompanied with a band of chromosome 20 inserted into chromosome 5. His mother and sister both had the same abnormal karyotype by familial investigation.


CONCLUSIONS
The combined use of M-FISH and chromosome microdissection is a powerful tool to determine CCR. The complex chromosomal rearrangement could be transmitted stably in the family, but still the carriers could give birth to a healthy baby by chance.
Qian
Wei-ping
WP
Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha, Hunan, 410078, PR China.
Tan
Yue-qiu
YQ
Tjia
Wai-mui
WM
Song
Dan
D
Guan
Xin-yuan
XY
Lu
Guang-xiu
GX
D000328:Adult; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D020732:Cytogenetic Analysis / Q000379:methods*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D014178:Translocation, Genetic