5p deletion syndrome: Why do they cry like a cat?

karyotyping activity

5p deletion syndrome also known as cri du chat syndrome occurs by a deletion on the p arm of chromosome 5, patients cry like a cat.  Chromosome deletion occurs when some random events part some portion of the chromosome. The portion usually is huge having 10 to 1000 vital and important genes; deletion results in … Read more

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

Are Chromosomal/ karyotyping Abnormalities Permanent or Temporary?

Any diagnostic reports that indicate to us regarding the problem with genetics and chromosomes the first and foremost thing that comes to our mind is the question asked above: are they permanent or temporary? Is it curable? How long is it going to stay in the body? Is it like any other disease or infection? … 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