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

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

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

How to Prevent Chromosomal Abnormality during Pregnancy?

How to Prevent Chromosomal Abnormality during Pregnancy?

By following a healthy lifestyle, eating good quality foods and taking some preventive measure helps to prevent chromosomal abnormalities during pregnancy. Every parent wants a healthy baby and they are trying for it as well. A healthy baby should have a good birth weight, no structural anomalies, good metabolic activity and mentally & physically fit.  … Read more

The rarest case of 3p Mosaic Deletion Duplication Syndrome

The rarest case of 3p Mosaic Deletion Duplication Syndrome

“3p mosaic deletion duplication syndrome is one of the rarest genetic/chromosomal conditions that involve both deletion and duplication of chromosome 3, which is congenital.” Deletion and duplication are the types of chromosomal aberrations. Deletion is when some portion of a chromosome gets removed from the chromosome. While duplication is when some portion gets copied or … Read more

How to Present Karyotype in a Standard Form?

How to Present Karyotype in a Standard Form?

Karyotype and karyotyping are similar terms, though, are different. Karyotyping is a genetic process of obtaining metaphase chromosomes while karyotype is an arranged form of it.  A standard form of a karyotype is when arranged pairwise in order to encounter any defects. The karyotyping or put simply, a karyotype is a technique to observe and … Read more