Chromosome 21

[Marinela Križanac]

Hello everyone,

I would need a comment regarding the obtained karyotypes.

My colleague has a case of two men whose spouses had 3 or more spontaneous abortions. 

For both men, we can call them men number 1A and number 2A, karyotype shows a "big" p part of the 21st chromosome which she presumed might be stalk.

We called their parents, and in both cases, their mother showed the same 21st chromosome as the sons. You can see their karyotypes on Figures number 1B and 2B. However, to my colleague, it seems that the stalk of one of them is too big and might be a duplication.

Therefore, my colleague's question would be: "Would you consider these two men's karyotipes as "normal with increased stalk on the 21st chromosome" or would you consider further analysis (e.g. chromosomal microarray analysis ?"

Figure names:

1A - man number 1

1B - mother of the man number 1

2A - man number 2

2B - mother of the man number 2

Thank you in advance.

[Christine Schwienbacher]

Hello,

did your colleague perform also QFQ banding?

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[Güven Toksoy]

Hi,

it' s looks like, all sample have same pattern of chr 21, my opinion is stk++ and sat++, you could try CBG and NOR banding, probably you will got same result.

regards

Doç. Dr. Güven Toksoy

Tıbbi Genetik AD

İstanbul Tıp Fakültesi

İstanbul Üniversitesi

Assoc Prof.Dr. Güven Toksoy (PhD)

Dep.artment of Medical Genetics

Istanbul Faculty of Medicine

İstanbul Universty

+90 212 4142000/35034

tok...@gmail.com.

guven....@istanbul.edu.tr

Marinela Križanac <krizanac...@gmail.com>, 20 Eki 2024 Paz, 14:34 tarihinde şunu yazdı:

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