Regarding karyotype image of a child with developmental delay

[Alka Anilkumar]

Dear All

Kindly give your precious suggestion regarding the karyotype of a female child with developmental delay, Parental karyotype found to be normal.

With Regards

Dr. Alka Anilkumar

[Nerea Bastida Lertxundi]

And chromose 8 in the left it’s an X and the X in the right it’s and 8 up side down. 

:)

El El vie, 4 sept 2020 a las 14:16, Nerea Bastida Lertxundi <nereabasti...@gmail.com> escribió:

Hello,

I’not sure bur i would say that the chromosome 4 in the left it’s a 5 chromosome. The 5 chromosome in the left it’s a 6 chromosome. And the chromosome 6 in rhe right it’s a 4.:)

Nerea

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[Nerea Bastida Lertxundi]

Hello,

I’not sure bur i would say that the chromosome 4 in the left it’s a 5 chromosome. The 5 chromosome in the left it’s a 6 chromosome. And the chromosome 6 in rhe right it’s a 4.:)

Nerea

El El vie, 4 sept 2020 a las 3:01, Alka Anilkumar <alkaan...@gmail.com> escribió:

[Jasen Anderson]

Discussed this briefly at work yesterday with Ross Brookwell. We reckon something going on with the 4p, 21s and 22s. I'd throw telomere FISH and maybe an array at it and see what pops up.

Cheers

Jasen Anderson

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[Alka Anilkumar]

Dear All

please omit trailing mail. Please find attached the karyotype images of the arranged chromosomes. Please see G group chromosomes mainly chromosome 21.

Thanks & Regards

---------- Forwarded message ---------
From: Alka Anilkumar <alkaan...@gmail.com>
Date: Thu, Sep 3, 2020 at 10:34 PM
Subject: Regarding karyotype image of a child with developmental delay
To: cytogenetics-methods...@googlegroups.com <cytogenetics-methods...@googlegroups.com>

Dear All

Kindly give your precious suggestion regarding the karyotype of a female child with developmental delay, Parental karyotype found to be normal.

Thanks & Regards

Dr. Alka Anilkumar

[Jasen Anderson]

Agreed about the 4s and 5s now that I squint a bit on my phone screen. 😁

Jasen

To view this discussion on the web visit https://groups.google.com/d/msgid/cytogenetics-methods-and-trouble-shooting/CACa%3DZjVgW3OMNs7cPFFZaxmx1tVWCcatH3BErdX%3DZGD7SKQTvg%40mail.gmail.com.

[Jasen Anderson]

And yes the 6 looks suspicious too. 

On Sat., 5 Sep. 2020, 5:20 pm Nerea Bastida Lertxundi, <nereabasti...@gmail.com> wrote:

To view this discussion on the web visit https://groups.google.com/d/msgid/cytogenetics-methods-and-trouble-shooting/CACa%3DZjVgW3OMNs7cPFFZaxmx1tVWCcatH3BErdX%3DZGD7SKQTvg%40mail.gmail.com.

[Nerea Bastida Lertxundi]

Hello, 

The 21 in the right seems different. An inversion? I would say the rest are good.

Can you perform an array?

Nerea

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