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A Familial Case Report of a 13;22 Chromosomal Translocation with Recurrent Intracytoplasmic Sperm Injection Failure.
Balkan J Med Genet. 2018 Dec; 21(2):73-77.BJ

Abstract

The importance of cytogenetic analysis in a family with reproductive failure in two siblings is highlighted, where two siblings and their mother presented with a balanced translocation between chromosomes 13;22. The clinical evaluation had shown the female to be normal and the male to be oligoasthenoteratozoospermic despite repeated semen analysis. The couple was referred to our laboratory after three consecutive intracytoplasmic sperm injection (ICSI) failures at a local assisted reproductive technique (ART) center. Peripheral blood lymphocytes, obtained for karyotyping, were studied by a standard G-banding technique. Chromosomal analysis of the members of the pedigree, including the probands, showed the presence of the same translocation, t(13;22)(q21.2;q13.3), carried by three generations of the family. The sister and the mother of the proband had multiple spontaneous abortions in the first trimester. The spouses, when examined cytogenetically, were found to be normal. We propose the involvement of a balanced t(13;22)(q21.2;q13.3) chromosomal translocation in the pathogenesis of recurrent ART or spontaneous reproductive failures. Hence, it is suggested that all cases with structural chromosomal abnormalities be counseled prior to opting for ART and undergoing pre-implantation genetic diagnosis (PGD). This would prevent recurrent financial, physical and emotional stress in couples seeking ART.

Authors+Show Affiliations

Department of Biotechnology, Shri Mata Vaishno Devi University (SMVDU), Katra, Jammu & Kashmir, India.Department of Biotechnology, Shri Mata Vaishno Devi University (SMVDU), Katra, Jammu & Kashmir, India.Department of Biotechnology, Shri Mata Vaishno Devi University (SMVDU), Katra, Jammu & Kashmir, India.Department of Biotechnology, Shri Mata Vaishno Devi University (SMVDU), Katra, Jammu & Kashmir, India.Laboratory for Molecular Reproduction and Genetics, Anatomy Department, All India Institute of Medical Science (AIIMS), New Delhi, India.Department of Biotechnology, Shri Mata Vaishno Devi University (SMVDU), Katra, Jammu & Kashmir, India.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

30984530

Citation

S, Verma, et al. "A Familial Case Report of a 13;22 Chromosomal Translocation With Recurrent Intracytoplasmic Sperm Injection Failure." Balkan Journal of Medical Genetics : BJMG, vol. 21, no. 2, 2018, pp. 73-77.
S V, R S, A B, et al. A Familial Case Report of a 13;22 Chromosomal Translocation with Recurrent Intracytoplasmic Sperm Injection Failure. Balkan J Med Genet. 2018;21(2):73-77.
S, V., R, S., A, B., Gr, B., R, D., & R, K. (2018). A Familial Case Report of a 13;22 Chromosomal Translocation with Recurrent Intracytoplasmic Sperm Injection Failure. Balkan Journal of Medical Genetics : BJMG, 21(2), 73-77. https://doi.org/10.2478/bjmg-2018-0017
S V, et al. A Familial Case Report of a 13;22 Chromosomal Translocation With Recurrent Intracytoplasmic Sperm Injection Failure. Balkan J Med Genet. 2018;21(2):73-77. PubMed PMID: 30984530.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A Familial Case Report of a 13;22 Chromosomal Translocation with Recurrent Intracytoplasmic Sperm Injection Failure. AU - S,Verma, AU - R,Shah, AU - A,Bhat, AU - Gr,Bhat, AU - R,Dada, AU - R,Kumar, Y1 - 2018/12/31/ PY - 2019/4/16/entrez PY - 2019/4/16/pubmed PY - 2019/4/16/medline KW - Assisted reproductive technique (ART) center KW - In vitro fertilization (IVF) KW - Infertility KW - Intracytoplasmic sperm injection (ICSI) KW - Karyotyping KW - Preimplantation genetic diagnosis (PGD) KW - Spontaneous abortions KW - Translocation SP - 73 EP - 77 JF - Balkan journal of medical genetics : BJMG JO - Balkan J. Med. Genet. VL - 21 IS - 2 N2 - The importance of cytogenetic analysis in a family with reproductive failure in two siblings is highlighted, where two siblings and their mother presented with a balanced translocation between chromosomes 13;22. The clinical evaluation had shown the female to be normal and the male to be oligoasthenoteratozoospermic despite repeated semen analysis. The couple was referred to our laboratory after three consecutive intracytoplasmic sperm injection (ICSI) failures at a local assisted reproductive technique (ART) center. Peripheral blood lymphocytes, obtained for karyotyping, were studied by a standard G-banding technique. Chromosomal analysis of the members of the pedigree, including the probands, showed the presence of the same translocation, t(13;22)(q21.2;q13.3), carried by three generations of the family. The sister and the mother of the proband had multiple spontaneous abortions in the first trimester. The spouses, when examined cytogenetically, were found to be normal. We propose the involvement of a balanced t(13;22)(q21.2;q13.3) chromosomal translocation in the pathogenesis of recurrent ART or spontaneous reproductive failures. Hence, it is suggested that all cases with structural chromosomal abnormalities be counseled prior to opting for ART and undergoing pre-implantation genetic diagnosis (PGD). This would prevent recurrent financial, physical and emotional stress in couples seeking ART. SN - 1311-0160 UR - https://www.unboundmedicine.com/medline/citation/30984530/A_Familial_Case_Report_of_a_13 L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/30984530/ DB - PRIME DP - Unbound Medicine ER -
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