[A de novo complex chromosomal rearrangement including translocation on 1,5 and 12 in a female carrier with her healthy girl].
We reported in the paper one case of a de novo complex chromosomal rearrangement (CCR) involving three different chromosomes,1, 5 and 12. Two pregnancies of the female carrier over three years resulted in two spontaneous abortions. Initial cytogenetic analysis of her peripheral lymphocyte by G banding suspected a karyotype 46,XX,t(1;5;12)(1pter -->1q25::12q24-->12qter;5qter--> 5p11::1q25-->1qter;12pter -->12q24::5p11-->5pter). Fluorescense in -situ hybridization (FISH) was used to confirm the karyotype 46,XX,t(1;5;12)(1pter-->1q23::12q22-->12qter;5qter-->5p11::1q25-->1qter;12pter-->12q22::1q23-->1q25::5p11-->5pter). Seven years later she was pregnant again and refused to have prenatal diagnosis. The fetus is normal both in phenotype and karyotype. Comparing previously reported female CCR carriers with the case, we conclude that female CCR carriers may not always present spontaneous abortion or have offspring with congenital malformation and can have chance to get a healthy child.
Cui
Ying-Xia
YX
Laboratory of Reproduction and Genetics, Nanjing General Hospital, Nanjing command PLA, Nanjing 210 002, China. cuiyx55@yahoo.com
Wang
Yong-Mei
YM
Yao
Bing
B
Huang
Yu-Feng
YF
D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002881:Chromosomes, Human, Pair 12; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D014178:Translocation, Genetic