Case report: elevated sperm aneuploidy levels in an infertile Robertsonian translocation t(21;21) carrier with possible interchromosomal effect
نویسندگان
چکیده
منابع مشابه
Aneuploidy 12 in a Robertsonian (13;14) carrier: Case report.
In translocation carriers, the presence of aneuploidy for the chromosomes unrelated to the rearrangement may lead to an additional risk of abnormal pregnancy or implantation failure. Consequently, it may be important to analyse not only the chromosomes involved in the rearrangement but also the rest of chromosomes. We combined spectral karyotyping (SKY) and comparative genomic hybridization (CG...
متن کاملSimultaneous Occurrence of Turner Syndrome and Robertsonian Translocation in a Girl with Short Stature: A Case Report
Short stature is an important clinical feature of Turner syndrome (TS). In this report, a girl with short stature suspected to have Turner syndrome underwent cytogenetic analysis, which confirmd Turner syndrome by observing sex chromosomal monosomy using the karyotype test. In addition to Turner syndrome, Robertsonian (ROB) translocation t(13;14) was detected. As recommended by a genetic counse...
متن کاملa robertsonian translocation rob (14;15) (q10:q10) in a patient with recurrent abortions: a case report
introduction: robertsonian translocation is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. in this report, we present a nonhomologous robertsonian translocation in a female patient with a history of repeated abortions. case presentation: a couple with the complaint of repeated abortions was admitted in the...
متن کاملAnalysis of Meiotic Segregation Patterns and Interchromosomal Effects in Sperm from 13 Robertsonian Translocations
The frequency of the Robertonian (ROB) translocation in newborn babies is approximately one in 1000. Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. The aim of the study was to analyze the segregation of the ROB translocations in 13 male carriers, and to verify a possible inter-chromosomal effect (ICE) of the ROB t...
متن کاملReduced recombination associated with the production of aneuploid sperm in an infertile man: a case report.
Studies using gene-linkage analysis have suggested that abnormal recombination during meiosis may lead to the production of aneuploid gametes; however, there is little direct evidence of a link between the two in human males. We analysed spermatocytes in the pachytene stage from a man with extremely high aneuploidy rates in his sperm. Testicular tissue specimens of the infertile man and two vas...
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ژورنال
عنوان ژورنال: Journal of Assisted Reproduction and Genetics
سال: 2012
ISSN: 1058-0468,1573-7330
DOI: 10.1007/s10815-012-9720-3