Cytogenetic investigation of 2,324 Japanese couples with repeated pregnancy loss revealed that 4.91% of couples (n = 114) had chromosome abnormalities including reciprocal translocation (n = 74), Robertsonian translocation (n = 23), and inversion (n = 10). Parental reciprocal translocation was a significant predictor of subsequent miscarriage (adjusted odds ratio: 3.6, 95% confidence interval: ...

CONFLICT OF INTEREST none declared. AIM The aim of this research was to ascertain the frequency of three basic cytogenetical types of Down syndrome among Kosova Albanian population and to evaluate the maternal age effect on the frequency of births of children with Down syndrome. METHODS Cytogenetics diagnosis has been made according to the standard method of Moorhead and Seabright. RESULT...

Robertsonian translocations are the most common chromosomal rearrangements in humans. The vast majority of the ten possible nonhomologous types of Robertsonian translocations ascertained are rob(13q14q) and rob(14q21q). Recombination between homologous sequences on nonhomologous chromosomes has been proposed as a mechanism leading to the preferential formation of rob(13q14q) and rob(14q21q). Ho...

Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal girl with mu...

To confirm the distribution of chromosome abnormalities and their effects on fertility, a cytogenetic survey was carried out in five different herds of Japanese Black Cattle. The chromosome abnormality most frequently observed was the 7/21 Robertsonian translocation. This translocation was observed in a local herd at a fairly high frequency of 10.9% due to continuous use of the carrier bulls in...

BACKGROUND The t(14;22) remains one of the rare Robertsonian translocations observed in human, with an occurrence estimated at 1.2%. Three cases of rare Robertsonian translocation t(14;22) were investigated for meiotic segregation in sperm samples from male carriers using the fluorescent in situ hybridization (FISH) procedure. The three carriers included two men with an abnormal semen analysis ...

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...

A 35-year-old male was found to have a 45,XY,-14,der(18)t(14;18)(q11;p11.3) karyotype during the investigations for a couple with infertility for 8 years. Two sperm samples were obtained and analysed in triple fluorescence in situ hybridization (FISH) with the D18Z1 and LSI IGH/BCL2 probes. The frequency of gametes exhibiting a normal or balanced chromosomal equipment was 87.26 and 90.97% in sa...

2 Emberger J M, Rodiere M, Astruc J, Brunel D. Syndrome de Prader Willi et translocation 15/15. Ann Genet (Paris) 1977; 20: 297-300. 3 Fraccaro M, Zuffardi 0, Buhler E M, Jurik L P. 15/15 translocation in Prader Willi syndrome. J Med Genet 1977; 14: 275-8. 4 Smith A, Noel M. A girl with the Prader Willi syndrome and Robertsonian translocation 45,XX,t(14;15) (p1 q1 1) which was present in 3 norm...

Robertsonian translocations (RT’s) are present in 0.1% of the general population and 1% of the infertile population. Two types of RT’s occur more frequently than all others, being 45,XX,rob(13;14)(q10;q10) and 45,XX,rob(14;21)(q10;q10) respectively. In the present report, an uncommon RT in a female with spontaneous repeated abortions is reported. Cytogenetic analysis of a couple with repeated a...