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Impact of chromosomal heteromorphisms on reproductive failure and analysis of 38 heteromorphic pedigrees in Northeast China.

Dong Y, Jiang YT, Du RC, Zhang HG, Li LL, Liu RZ - J. Assist. Reprod. Genet. (2012)

Bottom Line: The frequency of chromosomal heteromorphisms in reproductive failure patients (2.74 %, 126/4599) was of no statistically significant difference as compared with fertile control individuals (2.06 %, 16/777) (P > 0.05).There was no statistically significant difference in frequency of chromosomal heteromorphisms between reproductive failure and fertile control individuals in Northeast China.Through the analysis of 38 recalled families, we can also conclude that chromosomal heteromorphisms were not the impact factors for reproductive failure.

View Article: PubMed Central - PubMed

Affiliation: Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, China. dongyuancg@163.com

ABSTRACT

Purpose: To compare the frequency of chromosomal heteromorphisms in reproductive failure and fertile control individuals in Northeast China, and investigate the impact on reproductive failure

Methods: 1751 males and 1424 couples with reproductive failure (n = 4599) and 777 fertile control individuals in Northeast China were enrolled. Chromosome karyotype analysis was performed on peripheral blood lymphocytes with standard G-banding. Additionally, C-banding was performed with heterochromatin heteromorphisms, and NORs-banding with satellites/stalks variations. Multiplex polymerase chain reaction (PCR) adopted for the amplification using nine specific sequence tagged sites (STS) were used to detect Y-chromosome microdeletions with Y chromosome variations (Yqh±). At the same time, 38 heteromorphic probands' family members were recalled for performing karyotype analysis and to be surveyed for their detailed reproductive history.

Results: The frequency of chromosomal heteromorphisms in reproductive failure patients (2.74 %, 126/4599) was of no statistically significant difference as compared with fertile control individuals (2.06 %, 16/777) (P > 0.05). Eight cases of Y variation (Yqh±) probands with Y-chromosomal microdeletions were detected among 44 reproductive failure patients and 6 fertile control men. In the 38 recalled families, the probands of fathers or mothers, even some of their brothers or sisters, had the same heteromorphic karyotypes as probands' despite that they didn't have any adverse reproductive history.

Conclusions: There was no statistically significant difference in frequency of chromosomal heteromorphisms between reproductive failure and fertile control individuals in Northeast China. Males with Y variations (Yqh±) should be ordered Y-chromosomal microdeletions detection. Through the analysis of 38 recalled families, we can also conclude that chromosomal heteromorphisms were not the impact factors for reproductive failure.

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A flow chart of patients with reproductive failure in our Centre. 1751 males with abnormal semen quality in Group A, 2566 individuals in Group B and 282 patients in Group C who were ordered karyotype analysis composed the individuals of this present study(n = 4599)
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Fig1: A flow chart of patients with reproductive failure in our Centre. 1751 males with abnormal semen quality in Group A, 2566 individuals in Group B and 282 patients in Group C who were ordered karyotype analysis composed the individuals of this present study(n = 4599)

Mentions: From March 2009 to August 2012, a retrospective cohort of 4599 patients was performed karyotype analysis (including 1424 couples and 1751 males) with reproductive failure from the Centre for Reproductive Medicine in Northeast China. The mean age of the 4599 cases was 30.5 years (23~49 years). A flow chart of patients was in Fig. 1. These patients were divided into three groups (Group A-C): Group A infertility, male patients who had abnormal semen quality were underwent karyotype analyses (n = 1751), Group B recurrent spontaneous abortions or stillbirth, the 1283 couples (1283 males and 1283 females) who had two or more recurrent spontaneous abortions at less than 28 weeks of gestation or fetal death occurs after about 20 week of pregnancy were ordered karyotype analysis (n = 2566); Group C malformed childbearing history, the 141 couples had at least one child with congenital malformation, genetic syndromes, or mental retardation were performed karyotype analysis (n = 282). The fertile control group (n = 777) that consisted of 486 men and 291 women, of a mean age of 27.3 years (24–40 years), had no adverse reproductive history who had born at least one phenotypically normal child as volunteers from obstetrical department. Consequent to their noted chromosomal heteromorphic probands, 38 patients’ family members, including their parents, brothers or sisters were recalled for further investigations and surveillance of their detailed reproductive history. Paternity tests were performed in 38 probands and their parents, and the results showed they were biological parent child relations. Appropriate written voluntary consent was obtained from all the individuals and the study was approved by the Chinese Association of Humanitarianism and Ethics.Fig. 1


Impact of chromosomal heteromorphisms on reproductive failure and analysis of 38 heteromorphic pedigrees in Northeast China.

Dong Y, Jiang YT, Du RC, Zhang HG, Li LL, Liu RZ - J. Assist. Reprod. Genet. (2012)

A flow chart of patients with reproductive failure in our Centre. 1751 males with abnormal semen quality in Group A, 2566 individuals in Group B and 282 patients in Group C who were ordered karyotype analysis composed the individuals of this present study(n = 4599)
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3585671&req=5

Fig1: A flow chart of patients with reproductive failure in our Centre. 1751 males with abnormal semen quality in Group A, 2566 individuals in Group B and 282 patients in Group C who were ordered karyotype analysis composed the individuals of this present study(n = 4599)
Mentions: From March 2009 to August 2012, a retrospective cohort of 4599 patients was performed karyotype analysis (including 1424 couples and 1751 males) with reproductive failure from the Centre for Reproductive Medicine in Northeast China. The mean age of the 4599 cases was 30.5 years (23~49 years). A flow chart of patients was in Fig. 1. These patients were divided into three groups (Group A-C): Group A infertility, male patients who had abnormal semen quality were underwent karyotype analyses (n = 1751), Group B recurrent spontaneous abortions or stillbirth, the 1283 couples (1283 males and 1283 females) who had two or more recurrent spontaneous abortions at less than 28 weeks of gestation or fetal death occurs after about 20 week of pregnancy were ordered karyotype analysis (n = 2566); Group C malformed childbearing history, the 141 couples had at least one child with congenital malformation, genetic syndromes, or mental retardation were performed karyotype analysis (n = 282). The fertile control group (n = 777) that consisted of 486 men and 291 women, of a mean age of 27.3 years (24–40 years), had no adverse reproductive history who had born at least one phenotypically normal child as volunteers from obstetrical department. Consequent to their noted chromosomal heteromorphic probands, 38 patients’ family members, including their parents, brothers or sisters were recalled for further investigations and surveillance of their detailed reproductive history. Paternity tests were performed in 38 probands and their parents, and the results showed they were biological parent child relations. Appropriate written voluntary consent was obtained from all the individuals and the study was approved by the Chinese Association of Humanitarianism and Ethics.Fig. 1

Bottom Line: The frequency of chromosomal heteromorphisms in reproductive failure patients (2.74 %, 126/4599) was of no statistically significant difference as compared with fertile control individuals (2.06 %, 16/777) (P > 0.05).There was no statistically significant difference in frequency of chromosomal heteromorphisms between reproductive failure and fertile control individuals in Northeast China.Through the analysis of 38 recalled families, we can also conclude that chromosomal heteromorphisms were not the impact factors for reproductive failure.

View Article: PubMed Central - PubMed

Affiliation: Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, China. dongyuancg@163.com

ABSTRACT

Purpose: To compare the frequency of chromosomal heteromorphisms in reproductive failure and fertile control individuals in Northeast China, and investigate the impact on reproductive failure

Methods: 1751 males and 1424 couples with reproductive failure (n = 4599) and 777 fertile control individuals in Northeast China were enrolled. Chromosome karyotype analysis was performed on peripheral blood lymphocytes with standard G-banding. Additionally, C-banding was performed with heterochromatin heteromorphisms, and NORs-banding with satellites/stalks variations. Multiplex polymerase chain reaction (PCR) adopted for the amplification using nine specific sequence tagged sites (STS) were used to detect Y-chromosome microdeletions with Y chromosome variations (Yqh±). At the same time, 38 heteromorphic probands' family members were recalled for performing karyotype analysis and to be surveyed for their detailed reproductive history.

Results: The frequency of chromosomal heteromorphisms in reproductive failure patients (2.74 %, 126/4599) was of no statistically significant difference as compared with fertile control individuals (2.06 %, 16/777) (P > 0.05). Eight cases of Y variation (Yqh±) probands with Y-chromosomal microdeletions were detected among 44 reproductive failure patients and 6 fertile control men. In the 38 recalled families, the probands of fathers or mothers, even some of their brothers or sisters, had the same heteromorphic karyotypes as probands' despite that they didn't have any adverse reproductive history.

Conclusions: There was no statistically significant difference in frequency of chromosomal heteromorphisms between reproductive failure and fertile control individuals in Northeast China. Males with Y variations (Yqh±) should be ordered Y-chromosomal microdeletions detection. Through the analysis of 38 recalled families, we can also conclude that chromosomal heteromorphisms were not the impact factors for reproductive failure.

Show MeSH
Related in: MedlinePlus