BACKGROUND The prevalence of chromosomal abnormalities is assumed to be higher in infertile men and inversely correlated with sperm concentration. Although guidelines advise karyotyping infertile men, karyotyping is costly, therefore it would be of benefit to identify men with the highest risk of chromosomal abnormalities, possibly by using parameters other than sperm concentration. The aim of ...

Although presently known as an environmentally-related disease and appears mostly sporadic, cancer is regarded as a genetic disease based on the presence of gene mutation as a consistent factor. The "Philadelphia Chromosome" found consistently among chronic myeloid leukemia (CML) patients was the first significant finding of a chromosomal abnormality specifically related to a particular disease...

Although presently known as an environmentally-related disease and appears mostly sporadic, cancer is regarded as a genetic disease based on the presence of genetic mutation as a consistent factor. The “Philadelphia Chromosome” found consistently among chronic myeloid leukemia (CML) patients was the first significant finding of a chromosomal abnormality specifically related to a particular dise...

Turner syndrome (TS) is the most common cause of short stature and delayed puberty in females. Approximately half patients have classic form with a genotype 45,XO, one-fourth different mosaic forms, remaining structural abnormalities on X chromosome. Among abnormalities, isochromosome Xq. Females variants TS can present menarche, amenorrhea, infertility rather than manifestations TS. This study...

Pre-implantation genetic diagnosis (PGD) is the examination in vitro of an embryo (or an egg cell prior to fertilisation) in order to exclude a genetic condition in case a very high risk of that condition is known. PGD can only be used in combination with in vitro fertilisation (IVF). If a genetic abnormality in the form of a monogenetic disease such as Huntington’s disease or cystic fibrosis o...

We herein report a rare chromosomal abnormality observed in an acute promyelocytic leukemia (APL) patient. She had several APL derivative clones including a clone with i(17)(q10) abnormality, which consists of two kinds of structural abnormalities, a cryptic translocation of t(15;17) and an isochromosome of 17q. Although an obvious microscopic t(15;17) change was not observed on either arms of ...

SM Members Testing in children Chromosomal microarray analysis may be MEDICALLY NECESSARY for diagnosing a genetic abnormality in children with apparent nonsyndromic cognitive developmental delay/intellectual disability (DD/ID) or autism spectrum disorder (ASD) according to accepted Diagnostic and Statistical Manual of Mental Disorders-IV criteria when all of the following conditions are met (s...

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...

Lenalidomide is an immunomodulatory drug which is used to treat patients with MDS with deletion 5q chromosomal abnormality. In 2008, WHO introduced a new disease entity called MDS/MPN. No specific treatment for MDS/MPN subtype has yet been identified. We report a patient with MDS/MPN who responded well to lenalidomide therapy.