how to describer this karyotype?

[loster]

hi guys, would you please help me describer  this karyotype? 

we thought there may be a heteromorphism in 6p11.1 as ISCN2009 mentioned in page11, but  there is a  different opinions of being a inv(6). so what is your`s?    

[Mark Heil]

Its possible that there is both the heteromorphism AND in inversion, but I don't think there is. Maybe the darkness in p12 is just a stain artifact caused by the heteromorphism.  If it was an inversion, he centromere would be closer to p12.

On Fri, Mar 29, 2013 at 5:30 AM, loster <moc...@live.cn> wrote:

hi guys, would you please help me describer  this karyotype? 

we thought there may be a heteromorphism in 6p11.1 as ISCN2009 mentioned in page11, but  there is a  different opinions of being a inv(6). so what is your`s?    

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[la14...@yahoo.com]

Are you performed C-banding? It must make this case clearer

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מאת: loster <moc...@live.cn>
אל: cytogenetics-methods...@googlegroups.com
נשלח: שבת, 30 מרס 2013, 00:18:23 GMT+00:00
נושא: how to describer this karyotype?

hi guys, would you please help me describer  this karyotype? 

we thought there may be a heteromorphism in 6p11.1 as ISCN2009 mentioned in page11, but  there is a  different opinions of being a inv(6). so what is your`s?    

--

[Marcia]

Hi Loster

Did you do C band? I think this important to identify euchromatic or heterochromatic region. If C band is positive this case could be  the same of a case below.

http://www.sciencedirect.com/science/article/pii/S0378111911005087

Kind regards

Márcia

Em 29/03/2013, às 06:30, loster <moc...@live.cn> escreveu:

hi guys, would you please help me describer  this karyotype? 

we thought there may be a heteromorphism in 6p11.1 as ISCN2009 mentioned in page11, but  there is a  different opinions of being a inv(6). so what is your`s?    

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<1.pdf>

[dranuraggupta30]

Hello Loster,

I think it is more of a increased centromeric heterochromatin rather than an inversion. Well as others have said C banding will help you. Do let me know ur C banding finds.

Thanks and regards

[loster]

thank you everyone, I will do C band Monday and see if it is a euchromatic or heterochromatic region.  

[fbeh...@gmail.com]

Most probably it is polymorphism. Do C-banding, it should appear C positve.

Far

Sent from my iPad

On 29 Mar 2013, at 14:00, loster <moc...@live.cn> wrote:

hi guys, would you please help me describer  this karyotype? 

we thought there may be a heteromorphism in 6p11.1 as ISCN2009 mentioned in page11, but  there is a  different opinions of being a inv(6). so what is your`s?    

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<1.pdf>

[loster]

hi everyone,  C banding of our patient shows  a increased centromeric heterochromatin. attached please find the C-band photograph.   I also asked her parents to perform blood cytogenetics anaylsis to see if one of them has same heterochromatin, and I will update what we find next week!

Thank you all!

--
Wang Hao
Cytogenetics Laboratory of Hangzhou Prenatal Diagnosis Centre,
Hangzhou First People’s Hospital.
261 Huansha Road, Shangcheng District, 
Hangzhou, Zhejiang, China.
Phone：0086-0571-87065701-10538
Fax：0086-0571-87065701-10549
Mobile： 0086-138-58068670
Email: moc...@live.cn

[laevsky ilana]

It's increased and inverted! I'm sure, one of the parents has it.

 

From: loster <moc...@live.cn>
To: cytogenetics-methods...@googlegroups.com
Sent: Thursday, April 4, 2013 8:13 AM
Subject: Re: how to describer this karyotype?

hi everyone,  C banding of our patient shows  a increased centromeric heterochromatin. attached please find the C-band photograph.   I also asked her parents to perform blood cytogenetics anaylsis to see if one of them has same heterochromatin, and I will update what we find next week!

Thank you all!

On Mon, Apr 1, 2013 at 1:17 AM, <fbeh...@gmail.com> wrote:

Most probably it is polymorphism. Do C-banding, it should appear C positve.

Far

Sent from my iPad

On 29 Mar 2013, at 14:00, loster <moc...@live.cn> wrote:

hi guys, would you please help me describer  this karyotype? 

we thought there may be a heteromorphism in 6p11.1 as ISCN2009 mentioned in page11, but  there is a  different opinions of being a inv(6). so what is your`s?    

--

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<1.pdf>

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--
Wang Hao
Cytogenetics Laboratory of Hangzhou Prenatal Diagnosis Centre,
Hangzhou First People’s Hospital.
261 Huansha Road, Shangcheng District, 
Hangzhou, Zhejiang, China.
Phone：0086-0571-87065701-10538
Fax：0086-0571-87065701-10549
Mobile： 0086-138-58068670
Email: moc...@live.cn

[loster]

hi all, it seems our patient`s mother has the same chromosome polymorphism. And with a kind help provided by Thomas Liehr from Universitätsklinikum Jena   

[loster]

hi all, it seems our patient`s mother has the same chromosome polymorphism. And with a kind help provided by Thomas Liehr from Universitätsklinikum Jena, we confirmed it was a 6cen++, attached please find the FISH result.

​ ​

[la14...@yahoo.com]

Very beautiful heterochromatin,  and it's not inverted, now i see.

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מאת: loster <moc...@live.cn>
אל: cytogenetics-methods...@googlegroups.com

נשלח: יום ה׳, 11 אפר 2013, 12:42:30 GMT+00:00
נושא: Re: how to describer this karyotype?

[maria mouriki]

Hello Marcia!

 

Do you have an electronic copy of the article you are suggesting to send me? Thanx!

 

Maria

From: Marcia <marc...@gmail.com>
To: "cytogenetics-methods...@googlegroups.com" <cytogenetics-methods...@googlegroups.com>
Sent: Saturday, March 30, 2013 1:41 PM
Subject: Re: how to describer this karyotype?

[mukkanti kasaragadda]

Hi

that is 6qh+(heterochromatin variation).