Importance of Metaphase Chromosomes in Karyotyping

Metaphase chromosomes are often known as metaphase plates or “meta’s” only in technical terms, have significant importance in genetic research, especially in cytogenetics and karyotyping studies.  Techniques like conventional karyotyping, FISH- fluorescence in situ hybridization and SKY highly rely on metaphases. And therefore good, well-separated and sharper metaphases have been the objective first achieved. Although … Read more

Investigating a Karyotype of 3q29 Microdeletion Syndrome

The 3q29 deletion syndrome occurs by deletion of some portion from the q arm of chromosome 3 results in phenotypic alterations.  Chromosome 3 is the largest metacentric chromosome, comprises 200 million base pairs which represent 6.5% of total genomic content. Deletions are chromosome defects that occur when a part of a chromosome from either of … Read more

Common Clinical Karyotyping FAQs

Karyotyping is a common clinical genetic technique to observe and investigate chromosomes. Scientists using the technique for a long time, though not less known.  The karyotyping technique is now common for prenatal testing, fetal chromosome testing and to rule out other pregnancy-related problems and chromosomal aberrations.  It is very important for couples who are going … Read more

What is a Dicentric Chromosome?- Definition, Cause, Consequences

What is dicentric chromosome?

The dicentric chromosome is a highly uncommon event that occurs in the genome which causes genomic instability and cancer.  We have written many articles on common chromosome aberrations or chromosomal abnormalities such as a change in number, deletion, duplication and translocation.  These are common, studied well and can be identified easily using the conventional karyotyping … Read more

What Disorders are caused by the Double Monosomy?

Double monosomy is the aberrant chromosomal condition commonly found in the plant genome but so rare in the human genome. Chromosomal aberrations or defects we can say, are classified broadly into aneuploidies. The monosomy is a kind of aneuploidy in which a single chromosome from a pair is missing.  Meaning, that instead of normal 46 … Read more

What is Ring Chromosome?- Definition, Mechanism and Abnormalities

What is Ring Chromosome?- Definition, Mechanism and Abnormalities

A ring chromosome is formed when the ends of the same chromosome fuse together and make a ring-like structure. Chromosome ring formation is associated with certain health-related conditions.  Broad two categorize of chromosome aberrations or chromosome abnormalities are structural and numerical aberrations. When any event alters the structure of a chromosome greatly is referred to … Read more

Importance of Karyotyping in Infertility Screening

Karyotying is a technique to find chromosomal abnormalities such as Flinefeture, syndrome, Y chromosome microdeletions, Turner syndrome, sex reversal and other translocations in male and female infertility.  Do You know? 15% of the world population suffer from infertility. 1 in 6 couples faces difficulties to reproduce.  Karyotype abnormalities are reported in 2 to 14% of … Read more