The occurrence of mosaic Down's syndrome with two independent Robertsonian translocation cell lines is very rare. Such a patient is reported here, in whom an unbalanced Robertsonian translocation between two chromosomes 21 was detected in the majority of cells. The patient also revealed a minor cell line with a second Robertsonian translocation involving a chromosome 21 and a 22. The chromosome...

uniparental disomy (upd) is a situation in which both members of a chromosome pair are inherited from one parent. this study has been conducted on a family with a five year-old healthy girl and a mentally retarded boy. the parents were first cousins and they both had robertsonian translocation between their long arm of chromosome 13 and 14 [45, xy t (13q14q)]. their affected son had a similar k...

AIM The present study is carried out to evaluate the risk of giving birth to children with Down syndrome in a family with Robertsonian translocation 14q;21q, and to find the dermatoglyphic changes present in carriers of this translocation. METHODS Cytogenetics diagnosis has been made according to Moorhead and Seabright method, while the analysis of prints (dermatoglyphics analysis) was made w...

Among 17786 karyotyres performed in our center,during 18 years (1357-1375),1300(7.3%) cases of chromosome 21 aberration,including 1284(98.77%) of Down syndrome have been detected.1191 of cases (92.76%) born free trisomy 21:61 cases (4.75%) revealed translocation and 32 cases (2.4%) showed mosaic pattern.among the pateints,59 had robertsonian translocation,2 had translocation between chromosome ...

this case report presents a coincidence of trisomy 18 and balanced robertsonian translocation (13;14). aneuploidy was suspected based on anomalies detected in ultrasound scan and confirmed with karyotype. in a 31 years-old healthy woman with a history of one miscarriage, second trimester ultrasound scan reported iugr (<3rd percentile) with normal amniotic fluid, bilateral choroid plexus cysts, ...

BACKGROUND The t(13;22) Robertsonian translocation constitutes a rare form of rearrangement between acrocentric human chromosomes. Most of the meiotic segregation studies of human Robertsonian translocations have been performed on common t(13;14) and t(14;21) translocations. Analysis of the chromosomal constitution in sperm of Robertsonian translocation carriers is of great interest for assessi...

background: robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes. in carriers of such translocations, different modes of segregations would result in the formation of either balanced (alternate segregation mode) or unbalanced (adjacent 1, adjacent 2, and 3:1 segregation modes) gametes. in addition, there is an increased risk for im...

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...

INTRODUCTION A case of premature ovarian failure with concomitant findings of Robertsonian translocation between 15 and 21 chromosomes is reported here. The aforementioned karyotypic aberration has not been reported in the context of premature ovarian failure to date. CASE PRESENTATION We present a case of premature ovarian failure in a 27-year-old infertile Kurdish Iranian woman with a Rober...