Genetic counseling in carriers of reciprocal translocations involving two autosomes.

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dc.contributor.authorPourjafari, Bahareh
dc.contributor.authorPour-Jafari, Hamid
dc.contributor.authorFarimani, Marzieh
dc.contributor.authorGhahramani, Safieh
dc.contributor.authorSaleh, Ebrahim Kamrani
dc.date.accessioned2012-11-22T06:43:11Z
dc.date.available2012-11-22T06:43:11Z
dc.date.issued2012-05
dc.description.abstractOne of the main genetic causes involve in the pathogenesis of recurrent abortion is parental chromosomal abnormalities. The central concept in genetic counseling with such families is to estimate the probability of recurrence of unfavorable pregnancy outcomes. The main questions that consultants usually ask are: Why did this happen? What is the risk to be done again? Our cases were two families with repeated miscarriage. The pedigrees were drawn, the chromosomes of couples were studied, and estimation for recurrent risk was done. We tried to answer those two main questions and clear the results for them. Parental chromosome abnormalities were founded after karyotyping with GTG technique at 450 band resolution, revealing 46 chromosomes with balanced translocation of autosomes in one of the partner in both families. Recurrent risk was estimated as "high" for their future pregnancies in each family. Couples in which one partner is the carrier of such balanced translocation have increased risks of infertility, recurrent abortion, and delivery of chromosomally abnormal offspring. Genetic counseling of such couples, therefore, presents a unique challenge and should be considered in dealing with such families.en_US
dc.identifier.citationPourjafari Bahareh, Pour-Jafari Hamid, Farimani Marzieh, Ghahramani Safieh, Saleh Ebrahim Kamrani. Genetic counseling in carriers of reciprocal translocations involving two autosomes. Indian Journal of Human Genetics. 2012 May; 18(2): 250-253.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/143282
dc.language.isoenen_US
dc.source.urihttps://www.ijhg.com/article.asp?issn=0971-6866;year=2012;volume=18;issue=2;spage=250;epage=253;aulast=Pourjafarien_US
dc.subjectAbortionen_US
dc.subjectfamily planningen_US
dc.subjectgenetic counselingen_US
dc.subjectreciprocal translocationen_US
dc.subjectrepeated miscarriagesen_US
dc.subject.meshAbortion, Habitual --etiology
dc.subject.meshAbortion, Habitual --genetics
dc.subject.meshAdult
dc.subject.meshChromosome Aberrations --genetics
dc.subject.meshConsanguinity
dc.subject.meshFamily
dc.subject.meshFemale
dc.subject.meshGenetic Counseling --methods
dc.subject.meshHumans
dc.subject.meshIran
dc.subject.meshMale
dc.subject.meshPregnancy Outcome --genetics
dc.subject.meshTranslocation, Genetic --genetics
dc.titleGenetic counseling in carriers of reciprocal translocations involving two autosomes.en_US
dc.typeArticleen_US
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