A familial case report of a 13;22 chromosomal translocation with recurrent intracytoplasmic sperm injection failure
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 oligoasthen...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Sciendo
2018-12-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/bjmg-2018-0017 |
| _version_ | 1797705301714010112 |
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| author | Verma S Shah R Bhat A Bhat GR Dada R Kumar R |
| author_facet | Verma S Shah R Bhat A Bhat GR Dada R Kumar R |
| author_sort | Verma S |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T05:34:07Z |
| format | Article |
| id | doaj.art-13ce579066cc46e4acbbc21cb3f7793d |
| institution | Directory Open Access Journal |
| issn | 1311-0160 |
| language | English |
| last_indexed | 2024-03-12T05:34:07Z |
| publishDate | 2018-12-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Balkan Journal of Medical Genetics |
| spelling | doaj.art-13ce579066cc46e4acbbc21cb3f7793d2023-09-03T06:32:19ZengSciendoBalkan Journal of Medical Genetics1311-01602018-12-01212737710.2478/bjmg-2018-0017bjmg-2018-0017A familial case report of a 13;22 chromosomal translocation with recurrent intracytoplasmic sperm injection failureVerma S0Shah R1Bhat A2Bhat GR3Dada R4Kumar R5Department of Biotechnology, Shri Mata Vaishno Devi University (SMVDU), Katra, Jammu & Kashmir, IndiaDepartment of Biotechnology, Shri Mata Vaishno Devi University (SMVDU), Katra, Jammu & Kashmir, IndiaDepartment of Biotechnology, Shri Mata Vaishno Devi University (SMVDU), Katra, Jammu & Kashmir, IndiaDepartment of Biotechnology, Shri Mata Vaishno Devi University (SMVDU), Katra, Jammu & Kashmir, IndiaLaboratory for Molecular Reproduction and Genetics, Anatomy Department, All India Institute of Medical Science (AIIMS), New Delhi, IndiaDepartment of Biotechnology, Shri Mata Vaishno Devi University (SMVDU), Katra, Jammu & Kashmir, IndiaThe 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.https://doi.org/10.2478/bjmg-2018-0017assisted reproductive technique (art) centerinfertilityintracytoplasmic sperm injection (icsi)in vitro fertilization (ivf)karyotypingtranslocationpreimplantation genetic diagnosis (pgd)spontaneous abortions |
| spellingShingle | Verma S Shah R Bhat A Bhat GR Dada R Kumar R A familial case report of a 13;22 chromosomal translocation with recurrent intracytoplasmic sperm injection failure Balkan Journal of Medical Genetics assisted reproductive technique (art) center infertility intracytoplasmic sperm injection (icsi) in vitro fertilization (ivf) karyotyping translocation preimplantation genetic diagnosis (pgd) spontaneous abortions |
| title | A familial case report of a 13;22 chromosomal translocation with recurrent intracytoplasmic sperm injection failure |
| title_full | A familial case report of a 13;22 chromosomal translocation with recurrent intracytoplasmic sperm injection failure |
| title_fullStr | A familial case report of a 13;22 chromosomal translocation with recurrent intracytoplasmic sperm injection failure |
| title_full_unstemmed | A familial case report of a 13;22 chromosomal translocation with recurrent intracytoplasmic sperm injection failure |
| title_short | A familial case report of a 13;22 chromosomal translocation with recurrent intracytoplasmic sperm injection failure |
| title_sort | familial case report of a 13 22 chromosomal translocation with recurrent intracytoplasmic sperm injection failure |
| topic | assisted reproductive technique (art) center infertility intracytoplasmic sperm injection (icsi) in vitro fertilization (ivf) karyotyping translocation preimplantation genetic diagnosis (pgd) spontaneous abortions |
| url | https://doi.org/10.2478/bjmg-2018-0017 |
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