Journal of Reproduction & Infertility

Journal of Reproduction & Infertility

Robertsonian and Balanced Reciprocal Translocation in Both Child and Mother with a History of Recurrent Abortions

Authors
Subhadra Poornima 1
Swarnalatha Daram 1
Rama Krishna 2
Hasan Qurratulain 3
1 Department of Genetics and Molecular Medicine, Kamineni Hospitals, L.B. Nagar, Hyderabad, India; Department of Genetics and Molecular Medicine, Kamineni Life Sciences, Moulali, Hyderabad, India
2 Department of Biochemistry, Kamineni Academy of Medical Sciences and Research Centre, LB Nagar, Hyderabad, India
3 Department of Genetics and Molecular Medicine, Kamineni Hospitals, L.B. Nagar, Hyderabad, India
Abstract
Background: Similar rare Robertsonian and balanced reciprocal translocation in both child and mother with a history of multiple miscarriages in the first trimester was the motive to write this case report. Cytogenetic analysis helps in genetic counselling of infertility, BOH and dysmorphology which in turn helps in pre implantation genetic testing. Although many case reports have already been published about Robertsonian and balanced translocations, this is the first case report in India which showed both types of translocation in the same patient, rob (13;14) and t (4;7). Interestingly, in the same patient, same translocations were also identified in the mother and father having no chromosomal abnormalities. Case Presentation: Proband with dysmorphology was refered first for karyotyping and later parental karyotyping was performed. Conclusion: Cytogenetic analysis plays an important role in the diagnosis and management of disease along with prenatal screening.
Keywords
counselling
Culturing
Reciprocal translocation
Robertsonian translocation
  1. Alfarawati S, Fragouli E, Colls P, Wells D. Embryos of robertsonian translocation carriers exhibit a mitotic interchromosomal effect that enhances genetic instability during early development. PLoS Genet. 2012;8(10):e1003025.
  2. Arsham MS, Barch MJ, Lawce HJ, editors. The AGT cytogenetics laboratory manual. 4th ed. US: John Wiley & Sons; 2017. 1103 p.
  3. Bowser-Riley SM, Griffiths MJ, Creasy MR, Farndon PA, Martin KE, Thomson DA, et al. Are double translocations double trouble? J Med Genet. 1988;25(5):326-31.
  4. Crolla JA, Youings SA, Ennis S, Jacobs PA. Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited. Eur J Hum Genet. 2005;13(2):154-60.
  5. Keymolen K, Van Berkel K, Vorsselmans A, Staessen C, Liebaers I. Pregnancy outcome in carriers of Robertsonian translocations. Am J Med Genet A. 2011;155(10):2381-5.
  6. Kochhar PK, Ghosh P. Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities. J Obstet Gynaecol Res. 2013;39(1):113-20.
  7. Miryounesi M, Diantpour M, Motevaseli E, Ghafouri-Fard S. Homozygosity for a Robertsonian translocation (13q; 14q) in a phenotypically normal 44, xx female with a history of recurrent abortion and a normal pregnancy outcome. J Reprod Infertil. 2016;17(3):184-7.
  8. Ogilvie CM, Braude P, Scriven PN. Successful pregnancy outcomes after preimplantation genetic diagnosis (PGD) for carriers of chromosome translocations. Hum Fertil. 20011;4(3):168-71.
  9. Tempest HG, Cheng SY, Gillott DJ, Handyside AH, Thornhill AR, Griffin DK. Scoring of sperm chromosomal abnormalities by manual and automated approaches: qualitative and quantitative comparisons. Asian J Androl. 2010;12(2):257-62.
Journal of Reproduction & Infertility
Volume 21, Issue 1
Winter 2020
Pages 65-67