Re: Abridged summary of cytogenetics-methods-and-trouble-shooting@googlegroups.com - 7 updates in 1 topic

[Marija Batagelj]

Dear Alka,

I agree with Nerea that chr 21 is rearranged. In addition to aCGH or maybe FISH (at leats wcp 21), I woul perform parental karyotyping.

Best regards,

Marija

Sent from my iPhone

On Sep 6, 2020, at 4:50 AM, cytogenetics-methods...@googlegroups.com wrote:



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• Regarding karyotype image of a child with developmental delay - 7 Updates

Regarding karyotype image of a child with developmental delay

Nerea Bastida Lertxundi <nereabasti...@gmail.com>: Sep 04 02:16PM +0200 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.:) ...more

Nerea Bastida Lertxundi <nereabasti...@gmail.com>: Sep 04 02:18PM +0200 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 < ...more

Jasen Anderson <genema...@gmail.com>: Sep 05 01:51PM +1000 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 ...more

Alka Anilkumar <alkaan...@gmail.com>: Sep 04 02:44PM +0530 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 ...more

Jasen Anderson <genema...@gmail.com>: Sep 05 05:23PM +1000 Agreed about the 4s and 5s now that I squint a bit on my phone screen. 😁 Jasen   On Sat., 5 Sep. 2020, 5:20 pm Nerea Bastida Lertxundi, < ...more

Jasen Anderson <genema...@gmail.com>: Sep 05 05:24PM +1000 And yes the 6 looks suspicious too.   On Sat., 5 Sep. 2020, 5:20 pm Nerea Bastida Lertxundi, < ...more

Nerea Bastida Lertxundi <nereabasti...@gmail.com>: Sep 05 10:07AM +0200 Hello,   The 21 in the right seems different. An inversion? I would say the rest are good. Can you perform an array?   Nerea   El El sáb, 5 sept 2020 a las 9:24, Jasen Anderson ...more

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