全部 标题 作者
关键词 摘要

OALib Journal期刊
ISSN: 2333-9721
费用:99美元

查看量下载量

相关文章

更多...

Chromosome Polymorphism and Human Pathology: About 27 Cases of Chromosome 9 Inversion in the Beninese Population

DOI: 10.4236/ojgen.2021.113003, PP. 23-31

Keywords: Inversion, Chromosome 9, Karyotype, Abnormality, Fertility

Full-Text   Cite this paper   Add to My Lib

Abstract:

The chromosomal polymorphism defined by variations of some chromosomal regions of a person (the constitutive heterochromatin and the short arms of the acrocentric chromosomes (13 to 15 and 21 - 22)) sometimes highlighted problems with regard to their safety and their pathogenicity. Polymorphisms are usually found in the same family and transmitted in the dominant Mendelian. Chromosome 9 inversion is a frequent phenomenon that some cytogeneticists consider as a variant of normal. Despite its classification as a minor chromosome rearrangement which does not correspond to abnormal phenotypes, many reports have raised conflicting opinions as well, and its complete safety is controversial. 27 cases of inversion of chromosome 9 were identified in our laboratory. The main indications for karyotype of the case of inv (9) were congenital cardiopathy (18.5%), sex development disorders of (18.5%), down syndrome (18.5%), and infertility (14.8%). This study stood out the observations of many authors who highlighted the involvement of inv (9) in the genesis of several pathologies.

References

[1]  Gardner, R.J.M. and Sutherland, G.R. (2004) Chromosome Abnormalities and Genetic Counseling. 3rd Edition, University Press, Oxford, 142-162, 233-246.
[2]  Goud, M.T., Al-Harassi, S.M., Al-Khalili, S.A., Al-Salmani, K.K., Al-Busaidy, S.M. and Rajab, A. (2005) Incidence of Chromosome Abnormalities in the Sultanate of Oman. Saudi Medical Journal, 26, 1951-1957.
[3]  Duarte, A.C., Cunha, E., Roth, J.M., Ferreira, F.L., Garcias, G.L. and Martino-Roth, M.G. (2004) Cytogenetics of Genetic Counseling Patients in Pelotas, Rio Grande do Sul, Brazil. Genetics and Molecular Research, 3, 303-308.
[4]  Ait-Allah, A.S., Ming, P.M.L., Salem, H.T., et al. (1997) The Clinical Importance of Pericentric Inversion of Chromosome 9 in Prenatal Diagnosis. Journal of Maternal- Fetal Investigation, 7, 126-128.
[5]  Teo, S.H., Tan, M., Knight, L., Yeo, S.H. and Ng, I. (1995) Pericentric Inversion 9—Incidence and Clinical Significance. ANNALS Academy of Medicine Singapore, 24, 302-304.
[6]  Daya, S. (2006) Issues in the Etiology of Recurrent Spontaneous Abortion. Current Opinion in Obstetrics and Gynecology, 6, 153-159.
https://doi.org/10.1097/00001703-199404000-00008
[7]  Kumar, M., Thatai, A. and Chapadgaonkar, S.S. (2012) Homozygosity and Heterozygosity of the Pericentric Inversion of Chromosome 9 and Its Clinical Impact. Journal of Clinical and Diagnostic Research, 6, 816-820.
[8]  Miyaoka, T., Seno, H., Itoga, M., et al. (1999) A Case of Small Cerebral Cyst and Pericentric Inversion of Chromosome 9 That Developed Schizophrenia-Like Psychosis. Psychiatry and Clinical Neurosciences, 53, 599-602.
https://doi.org/10.1046/j.1440-1819.1999.00612.x
[9]  Mozdarani, H., Meybodi, A.M. and Karimi, H. (2007) Impact of Pericentric Inversion of Chromosome 9 [inv(9) (p11q12)] on Infertility. Indian Journal of Human Genetics, 13, 26-29.
https://doi.org/10.4103/0971-6866.32031
[10]  Hsu, L.Y., Benn, P.A., Tannenbaum, H.L., Perlis, T.E. and Carlson, A.D. (1987) Chromosomal Polymorphisms of 1, 9, 16, and Y in 4 Major Ethnic Groups: A Large Prenatal Study. American Journal of Medical Genetics, 26, 95-101.
https://doi.org/10.1002/ajmg.1320260116
[11]  Kaiser, P. (1984) Pericentric Inversions. Problems and Significance for Clinical Genetics. Human Genetics, 68, 1-47. https://doi.org/10.1007/BF00293869
[12]  Demirhan, O., Pazarbasi, A., Suleymanova-Karahan, D. and Tanriverdi, N. (2008) Correlation of Clinical Phenotype with a Pericentric Inversion of Chromosome 9 and Genetic Counseling. Saudi Medical Journal, 29, 946-951.
[13]  Yamada, K. (1992) Population Studies of inv(9) Chromosomes in 4 300 Japanese: Incidence, Sex Difference and Clinical Significance. The Japanese Journal of Human Genetics, 37, 293-301.
https://doi.org/10.1007/BF01883320
[14]  [14]Šípek, A., Panczak, A., Mi halová, R., Hrčková, L., Suttrová, E., Sobotka, V., et al. (2015) Pericentric Inversion of Human Chromosome 9 Epidemiology Study in Czech Males and Females. Folia Biologica (Praha), 61, 140-146.
[15]  Jeong, S.-Y., Kim, B.-Y. and Yu, J.E. (2010) De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly. Yonsei Medical Journal, 51, 775-780.
https://doi.org/10.3129/i09-119
[16]  Andelfinger, G., Wright, K.N., Lee, H.S., Siemens, L.M. and Benson, D.W. (2003) Canine Tricuspid Valve Malformation, a Model of Human Ebstein Anomaly, Maps to Dog Chromosome 9. Journal of Medical Genetics, 40, 320-324.
https://doi.org/10.1136/jmg.40.5.320
[17]  Mustaqahamed, S., Balachandar, V., Mohanadevi, S., et al. (2011) Identification of Cytogenetic Alterations in Infertile Couples Experiencing Repeated Spontaneous Abortions—Using Giemsa Trypsin Giemsa Banding (GTG). Scientific Research and Essays, 6, 182-186.
[18]  Liang, S.S., Yang, J.Z., Wu, H.X., Teng, X.M. and Duan, T. (2019) Effects of Chromosome 9 Inversion on IVF/ICSI: A 7-Year Retrospective Cohort Study. Molecular Genetics & Genomic Medicine, 7, e856. https://doi.org/10.1002/mgg3.856
[19]  Sotoudeh, A., Rostami, P., Nakhaeimoghadam, M., Mohsenipour, R. and Rezaei, N. (2017) Pericentric Inversion of Chromosome 9 in an Infant with Ambiguous Genitalia. Acta Medica Iranica, 55, 655-657.
[20]  Hajhouji, S., Hakkou, K. and Gaouzi, A. (2014) Micropenis sur inversion pericentrique du chromosome 9: Quel lien? Annales d’Endocrinologie, 75, 313.
https://doi.org/10.1097/00001703-199404000-00008
[21]  Labied, A., Sellay, S., Elmokhtari, M. and Gaouzi, A. (2016) Association dysgénésie gonadique et une inversion péricentrique du chromosome 9: Y a-t-il un lien? Annales d’endocrinologie, 77, 453. https://doi.org/10.1016/j.ando.2016.07.592
[22]  Lee, S.-G., Park, T.S., Lim, G., Lee, K.-A., Song, J. and Choi, J.R. (2010) Constitutional Pericentric Inversion 9 and Hematological Disorders: A Korean Tertiary Institution’s Experience over Eight Years. Annals of Clinical & Laboratory Science, 40, 273-277.
[23]  Parmar, R.C. and Sira, P. (2003) Prenatal Diagnosis of Partial Trisomy 21 Associated with Maternal Balanced Translocation 46,XX,der (21)t(21q;22q) with Pericentric Inversion of Chromosome 9. Journal of Postgraduate Medicine, 49, 154-156.

Full-Text

comments powered by Disqus

Contact Us

service@oalib.com

QQ:3279437679

WhatsApp +8615387084133