Genetic variation affects de novo translocation frequency.

A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure

Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm.

The constitutional t(11;22) is the most frequent recurrent non-Robertsonian translocation in humans, the breakpoints of which are located within palindromic AT-rich repeats on 11q23 and 22q11 (PATRR11 and PATRR22). Genetic variation of the PATRR11 was found to affect de novo t(11;22) translocation frequency in sperm derived from normal healthy males, suggesting the hypothesis that polymorphisms...

Cord Blood Karyotyping: A Safe and Non-Invasive Method for Postnatal Testing of Assisted Reproductive Technology Children

Objective To verify the hypothesis that the incidence of chromosomal abnormalities increases in babies conceived by different assisted reproduction procedures. The availability of the umbilical cord blood encouraged us to study this hypothesis via this method. MaterialsAndMethods This is a descriptive study, umbilical cord blood samples of assisted reproductive technology (ART) children were an...

A Rare Case of Acute Myeloid Leukemia with Translocation (3:3) Presenting with Features of Chronic Myelomonocytic Leukemia

Background: Acute Myeloid Leukemia (AML) with translocation (3,3) is a form of AML that may present de novo or may arise from a previous myelodysplastic syndrome. It is often associated with normal or elevated peripheral blood platelet count and increased bone marrow megakaryocytes with associated multi lineage dysplasia. A subset of patients present with hepatosplenomegaly while a few cases h...

Clustering of Short Read Sequences for de novo Transcriptome Assembly

Given the importance of transcriptome analysis in various biological studies and considering thevast amount of whole transcriptome sequencing data, it seems necessary to develop analgorithm to assemble transcriptome data. In this study we propose an algorithm fortranscriptome assembly in the absence of a reference genome. First, the contiguous sequencesare generated using de Bruijn graph with d...