July 2020 – KaryotypingHub

20 Common karyotyping (or Chromosomal) Abnormalities

A karyotype is prepared in order to study the abnormalities associated with it that are commonly known as chromosomal abnormalities or karyotyping abnormalities. Usually, karyotyping abnormalities are either structural or numerical, notably, here single base change or other smaller alteration related DNA can’t be encountered using the karyotyping. However, as we know we can count …

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A karyotype of Edwards Syndrome- Explained

2 Comments / Karyotyping / By drtusharchauhan

Edwards syndrome is a type of chromosomal or karyotype abnormality that occurs due to the imbalance of chromosome number. During 1960, John Hilton Edwards first described the signs and symptoms of Edwards syndrome. The present genetic or chromosomal aberration is often known as T18 or trisomy 18. The mechanism known as trisomy is responsible for …

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What is a Spectral Karyotyping (SKY)?

1 Comment / Uncategorized / By drtusharchauhan

Using a combination of different colored probes every chromosome present in a genome can be visualized differently. Talk of the topic: In the present article, we are discussing a general introduction to karyotyping, what spectral karyotyping is, and what is its principle and how it works. Also in the last segment of this article, we …

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A karyotype of Patau syndrome- Explained.

Karyotyping / By drtusharchauhan

A karyotype of Patau syndrome is known as T13, is a trisomy of chromosome 13 and majorly associated with intellectual disabilities and developmental problems. Patau syndrome is not so common but still it is one of the common trisomy like the down syndrome and Edwards syndrome. Talk of the topics: in the present article we …

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Karyotyping vs Karyotype

Uncategorized / By drtusharchauhan

A karyotyping is a process to evaluate chromosomes while a karyotype is a pictorial representation of it. I know it is confusing. People commonly consider karyotyping and karyotype as the same. But let me tell you practically, both techniques are different. For common or non-scientific people both techniques are similar. But as a scientist or …

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XXXXY Karyotype- The Rarest Case of Aneuploidy

Karyotyping / By drtusharchauhan

“The 49, XXXXY karyotype is the rarest form of chromosomal condition or aneuploidy occurring mostly in males due to the event known as non-disjunction.” Or we can say, A type of aneuploidy, 49, XXXXY is a kind of chromosomal abnormality occurring by the presence of three extra chromosomes in a male. The addition or deletion …

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What does an Abnormal Karyotype Show?

Karyotyping / By drtusharchauhan

Analysing and interpreting an Abnormal karyotype An abnormal karyotype may show many things that are related to the health condition of a patient. A standard cytogenetic technique- karyotyping is performed to detect abnormalities associated with chromosomes. An abnormal and normal karyotype looks exactly the same to a great extent at first glance, you can’t identify …

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A karyotype of Turner Syndrome- Explained

Karyotyping / By drtusharchauhan

Turner syndrome affects only female individuals. A type of chromosomal abnormality- Turner syndrome occurs due to the event known as nondisjunction. The karyotype of Turner syndrome shows something very different that is not observed in the normal karyotype. Talk of the topic: In the present article we are going to explain the karyotype of the …

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