Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS).

I-37: Genome Instability and DNA Damage in Male Somatic and Germ Cells Expressed as Chromosomal Microdeletion and Aneuploidy Is A Major Cause of Male Infertility

Background: Sperm chromatin insufficiencies leading to low sperm count and quality, infertility and transmission of chromosomal microdeletion and aneuploidies to next generations can be due to exposure to environmental pollutions, chemicals and natural or manmade ionizing radiation. In this project which has continued for more than 10 years and is unique in many technical aspects in Iran and in...

Development of an Alu-PCR Amplified YAC Probe Suitable for Enumeration of Chromosome 13 on Uncultured Lymphocytes and Amniocytes by Fluorescence in situ Hybridization

The main objective of the present study was to develop an efficient and reliable probe to be routinely used for detection of chromosome 13 copy numbers by interphase FISH. To achieve this, a Yeast Artificial Chromosome (YAC) containing sequences specific for human 13q12 (744D11), was cultured and the whole yeast genomic DNA was extracted. The human insert within the isolated DNA was amplified b...

Combined FISH and PRINS sperm analysis of complex chromosome rearrangement t(1;19;13): an approach facilitating PGD.

Complex chromosome rearrangements (CCRs) are structural aberrations involving three or more breakpoints on two or more chromosomes. These CCRs result in a high rate of chromosome imbalances potentially leading to subfertility and congenital abnormality. In this study, we analysed meiotic segregation in the sperm of a patient with a familial CCR 46, XY,t(1;19;13)(p31;q13.2;q31)mat included in an...

The Primed In Situ (PRINS) Technique: An Alternative Approach for Preimplantation Chromosomal Diagnosis

Prader Willi/Angelman and DiGeorge/velocardiofacial syndrome deletions: diagnosis by primed in situ labeling (PRINS).

A recently developed methodology-primed in situ labeling (PRINS)-can be used in place of fluorescence in situ hybridization (FISH) to diagnose microdeletions. To demonstrate the efficiency, sensitivity, and specificity of PRINS in the diagnosis of microdeletions, we studied groups of patients with Prader Willi/Angelman (PWS/AS) syndrome and DiGeorge/velocardiofacial syndrome (DGS/VCFS). Results...