2009Hereditas (Beijing)Requires access

Analysis of the chromosomal abnormality in 5774 patients with clinical reproductive abnormality and 32 new karyotypes

Jing Qin, Chenguang Zheng, Juan Du, Ke Chen, Xiaoxian Tian, Lei Xiang, Liang Sun, Ze Yang

Open publisher page 2 citations

Abstract

To study the relationship between chromosomal abnormality and clinical ending events of reproductive abnormality, G-banding and karyotype analyses were carried out by using chromosome preparations from peripheral blood lymphocytes. Out of 5 774 cases with reproductive abnormality, 550 individuals had chromosomal abnormalities. Among them, 255 cases (46.36%) were trisomy, 91 cases (16.55%) were reciprocal translocation, 85 cases (15.45%) were chromosomal inversion, 81 cases (14.73%) were deletions, 21 cases (3.82%) were Robertsonian translocation, 7 cases (1.27%) were short arm increment, 6 cases (1.09%) were Y chromosome increment and 4 cases (0.73%) were abnormal satellites. Thirty-two cases with novel chromosomal abnormality karyotypes in them, being complicated by miscarriage, sterility, and congenital malformation, were firstly reported. The results suggested that chromosomal abnormality could be the one of main factors related to the bad reproductive ending events.

About this research paper

What this paper is about

To study the relationship between chromosomal abnormality and clinical ending events of reproductive abnormality, G-banding and karyotype analyses were carried out by using chromosome preparations from peripheral blood lymphocytes. Out of 5 774 cases with reproductive abnormality, 550 individuals had chromosomal abnormalities. Among them, 255 cases (46.36%) were trisomy, 91 cases (16.55%) were reciprocal translocation, 85 cases (15.45%) were chromosomal inversion, 81 cases (14.73%) were deletions, 21 cases (3.82%) were Robertsonian translocation, 7 cases (1.27%) were short arm increment, 6 cases (1.09%) were Y chromosome increment and 4 cases (0.73%) were abnormal satellites. Thirty-two cases with novel chromosomal abnormality karyotypes in them, being complicated by miscarriage, sterility, and congenital malformation, were firstly reported. The results suggested that chromosomal abnormality could be the one of main factors related to the bad reproductive ending events.

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Available abstract

To study the relationship between chromosomal abnormality and clinical ending events of reproductive abnormality, G-banding and karyotype analyses were carried out by using chromosome preparations from peripheral blood lymphocytes. Out of 5 774 cases with reproductive abnormality, 550 individuals had chromosomal abnormalities. Among them, 255 cases (46.36%) were trisomy, 91 cases (16.55%) were reciprocal translocation, 85 cases (15.45%) were chromosomal inversion, 81 cases (14.73%) were deletions, 21 cases (3.82%) were Robertsonian translocation, 7 cases (1.27%) were short arm increment, 6 cases (1.09%) were Y chromosome increment and 4 cases (0.73%) were abnormal satellites. Thirty-two cases with novel chromosomal abnormality karyotypes in them, being complicated by miscarriage, sterility, and congenital malformation, were firstly reported. The results suggested that chromosomal abnormality could be the one of main factors related to the bad reproductive ending events.

Key concepts: Abnormality, Chromosomal translocation, Karyotype, Chromosomal Abnormality, Robertsonian translocation, Chromosome abnormality, Miscarriage, Biology

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