Prevalence and Phenotypic Impact of Robertsonian Translocations

Robertsonian Translocations: An Overview of 872 Robertsonian Translocations Identified in a Diagnostic Laboratory in China

Robertsonian translocations (ROBs) have an estimated incidence rate of 1/1000 births, making this type of rearrangement the most common structural chromosomal abnormalities seen in the general population. In this study, we reports 872 cases of ROBs from 205,001 specimens karyotyped postnatally in a single accredited laboratory in China, including 583 balanced ROBs, 264 unbalanced ROBs, 9 mosaic...

Micro-Evolution in Grasshoppers Mediated by Polymorphic Robertsonian Translocations

This review focuses on grasshoppers that are polymorphic for Robertsonian translocations because in these organisms the clarity of meiotic figures allows the study of both chiasma distribution and the orientation of trivalents and multivalents in metaphase I. Only five species of such grasshoppers were found in the literature, and all of them were from the New World: Oedaleonotus enigma (Scudde...

Two Robertsonian translocations in a boy with mental retardation.

Rare Robertsonian translocations and meiotic behaviour: sperm FISH analysis of t(13;15) and t(14;15) translocations: a case report.

t(13;15) and t(14;15) are two rare Robertsonian translocations. Meiotic segregation was studied in four males heterozygous for the rare Robertsonian translocations t(13;15) and t(14;15). Both locus-specific probes (LSPs) and whole chromosome painting (WCP) probes, specific to chromosomes 13, 14 and 15, were used in this study. The number of spermatozoa scored for each carrier ranged from 891 to...

Effect of Reciprocal Translocations on Phenotypic Abnormalities

The chromosomal disorders make a significant contribution to human mortality and morbidity. Karyotyping allows the identification of various chromosomes involved in a rearrangement. Chromosomal aberrations occur in approximately 1 in 200 live – born infants and the incidence of reciprocal translocations (rcpts) occur as 1/ 500 live births. Balanced reciprocal translocations can lead to a variet...