Case Report

ROBERTSONIAN TRANSLOCATIONS—IN A YOUNG COUPLE WITH RECURRENTMISCARRIAGE

Dharmendra Jain1, Manoj Mishra1, Sohani Verma2, V.P. Raina1, K. Iravathy Goud1

1Molecular Biology and Immunology lab, 2Department of Obstetrics and Gynecology,Indraprastha Apollo Hospitals, Sarita Vihar, Mathura Road, New Delhi 110 076, India.

Correspondence to: Dr. V.P. Raina, Senior Consultant, Department of Molecular Biology and Immunology lab,Indraprastha Apollo Hospitals, Sarita Vihar, Mathura Road, New Delhi 110 076, India.

Recurrent miscarriage is a cause of concern for not only the pregnant couple but also the treating doctor. Oncea couple is faced with this problem, they travel from one physician to the other looking for the cause and apotential remedy. Cytogenetic analysis of the couple forms an import investigation and is not available in manycenters. We herewith report a case of Robetsonian translocation in a young couple who has a potential to havea normal child now .

Key words: Cytogenetics, Recurrent abortions, Robetsonian translocation

INTRODUCTION

Spontaneous pregnancy loss is a very commoncomplication and a matter of concern for couplesplanning pregnancy. Balanced chromosomal rear-rangements in either parent are an important cause ofrecurrent pregnancy loss particularly in the first trimester.Among the balanced translocations, Robertsoniantranslocations are the common and found to carryreproductive risks that are dependent on thechromosomes involved and the sex of the carrier. In thepresent case Robertsonian translocation was found in awoman who had multiple pregnancies in which theoutcome was abortion.

MATERIALS AND METHODS

The couple (wife 25 yrs of age and husband 29 yrs ofage) were referred to us from Obstetric Department forcytogenetic analysis. The previous obstetric history ofthe couple and other carriers in the family was collectedfrom the couple in a well designed proforma. The patienthad two abortions in first trimester, one abortion insecond trimester and the last was a full term still born. Nohistory of consanguinity was noted. None of the familymember was affected with a similar illness and there wasno history suggestive of intrauterine infection.Investigation for TORCH group of infections wasperformed which were negative.

Peripheral blood (2 mL) from the couple wascollected in heparin vacutainers (Becton Dickinson,

USA). For each partner whole blood (0.5 mL) cultureswas set up in 5 mL RPMI 1640 media (GIBCO BRL,USA) containing 15% fetal calf serum (BiologicalIndustries, KBH, Israel), antibiotic mixture andphytohemagglutinin P (DIFCO Lab, USA) for 72 hrs(Moorehead et al 1960 [1]. Giemsa trypsin banding(GTG) of metaphase chromosomes was performedusing standard methodology [2]. In each case minimumof 25 complete metaphase plates were scored andkaryotypes prepared. A minimum of 50 metaphaseswere further analyzed for confirmation of mosaicism.Karyotypes were interpreted using the recommendationof International System for Human CytogeneticNomenclature [3].

RESULTS

The cytogenetic analysis revealed in the male partnershowed: 46, XY- Normal Male Karyotype (ISCN 400bands) in all the 50 metaphases analyzed (Fig. 1). Thefemale partner showed: 45,XX, rob(14;21) in all the 50cells analyzed (Fig. 2).

DISCUSSION

Evaluation of patients with a history of repeatedspontaneous abortions requires careful consideration ofgenetic, anatomic, endocrine, infectious, andimmunological factors. Assigning proper etiologicalrole to each of these contributing factors is often unclear,however the specific information about the cytogeneticmakeup of the couples and if possible of the abortus, still

63 Apollo Medicine, Vol. 4, No. 1, March 2007

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Case Report

Fig.2.Female karyotype showing 46, XX, rob(14;21)

Fig.1. Male karyotype showing Normal Male 46, XY

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remains a primary focus during evaluation of such cases.Studies indicate that when the Robertsoniantranslocation is maternal, there is greater risk that thefetus will exhibit an unbalanced phenotype [4]. Carriersof this anomaly are phenotypically normal, as in ourfamily, and have 45 chromosomes.

Prenatal diagnosis has been available to carriers ofRobertsonian translocations for many years. The presentcouple has been counseled that they could opt forchorionic villi sampling or consider PGD in conjunctionwith assisted conception using IVF or intra cytoplasmsperm injection (ICSI). Thus cytogenetic analysis canhelp to solve the mystery of a recurrent miscarriage andalso suggest remedial measures.

REFERENCES

1. Moorhead PS, Norvell PC, Mellman WJ, Battips DM,Hungerford DA. Chromosome preparations of leukocytescultured from human peripheral blood. Exp Cell Res1960;202:613-616.

2. Seabright M. A rapid banding technique for humanchromosomes. Lancet 1971; 2: 971-972.

3. Mittleman F (ed). ISCN- An international system for humancytogenetic nomenclature, Karger, Basel, Switzerland,1995.

4. Boue, A., Gallano, P. A collaborative study of thesegregation of inherited chromosome structuralrearrangements in 1356 prenatal diagnoses. Prenat.Diagn., 1984; 4, 45-67.