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    11 views4 pages

    Jkms 16 290 PDF

    Uploaded by

    Ruxandra Cretu

    Copyright:

    © All Rights Reserved
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    of 4
    1 Korean Med Sei 2001; 16: 2903 SSW 1011.8954 Copyright ©The Korean Academy of Medical Sciences Frequencies of Fetal Chromosomal Abnormalities at Prenatal Diagnosis: 10 years experiences in a single We present frequencies of fetal chromosomal abnormalities in 4,907 prenatal ‘cytogenetic examinations at Samsung Cheil Hospital from 1988 to 1997 for 10 yr duration. Prenatal karyotypes were undertaken in 3,913 amniotic fluid samples, ‘800 chorionic vill samples, and 194 percutaneous umbilical blood samples. The frequency of fetal abnormal karyotypes was 3.1% (150 cases). Numerical chro- mosome abnormalities were 87 cases (1.8%) and structural aberrations of chro- mosomes were 63 cases (1.3%). In the numerical chromosornal abnormalities, the frequency of trisomy 21 was by far the highest (96 cases), followed by trisomy 18 in 22 cases and sex chromosome aneuploidies in 19 cases. In the structural chromosomal aberrations, 5 cases had the inversions in chromosome 2,7, 17, and Y. Chromosomal deletions in 6 cases and additions in 4 cases were analysed. Of the remaining 47 translocation in abnormal fetuses, reciprocal translocation was in 26 cases and Robertsonian translocation in 21 cases. ‘Among them, 41 cases were balanced transiocation and 6 were unbalanced. Thity five cases of translocation were inherited from one of the parents. Four had de novo chromosome rearrangements, and 8 cases were unknown. Key Words: Cramosome Annomates; Penatal Dagnasis: Ctogenet INTRODUCTION quency of fetal chromosomal. abnorn institution ‘So-Yeon Park, Jin-Woo Kim, Young-Mi Kim, sin-Mee Kim, Moon-Hee Lee, Bom-Vi Lee,

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