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협동원체 역위를 가진 모체로부터 유래된 재조합 3번 염색체에 관한 증례 보고
최진선 ( Jin Sun Choi ),우미정 ( Mi Jung Woo ),송남희 ( Nam Hee Song ),고희정 ( Hee Jung Ko ),오선경 ( Sun Kyung Oh ),박관진 ( Kwan Jin Park ),이영아 ( Young Ah Lee ),임병찬 ( Byung Chan Um ),채종희 ( Jong Hee Chae ),최영민 ( Youn 서울대학교 인구의학연구소 2012 人口醫學硏究論集 Vol.25 No.-
Inversion generally has no effect on the carrier`s phenotype as one of the balanced rearrangements. However, despite the fundamental role of crossing-over within the inversion loop in the pairing and segregation of chromosomes during meiosis, the presence of an inversion may lead to the production of recombinant gametes, responsible for spontaneous abortions or congenital abnormalities. Additional chromosome of unknown origin attached to a terminal band of chromosome 3q was detected in a newborn boy with developmental delay and microphallus. The karyotype of the patient was 46,XY,add(3)(q29). Parental chromosome analyses and fluorescence in situ hybridization(FISH) revealed mat add(3)(q29) was a recombinant chromosome resulting from meiotic recombination of a maternal pericentric inversion, inv(3)(p24.3q29). Thus, this child has partial trisomy for the short arm and partial small distal monosomy for the long arm of chromosome 3. The final karyotype of the child was 46.XY,rec(3)dup(3p)inv(3Xp24.3q29)mat. These cytogenetic outcomes may be helpful for determining the causes of patient`s abnormalities and to provide valuable information for generic counseling.