help with karyotype

[Jern Bucha]

Dear members, I need help with kariotype that I'm analysing at the moment. As you can see in attached picture, there is duplication-like anomaly in the q12 (?) region of human chr1. I cannot find any reference in literature so I ask you to suggest where should I look, or what additional test should I perform to solve this problem. Have you ever had anything similar? If so, how did you solve the problem. 

I will be very thankful for any suggestion and answer. 

regards,

J

[Güven Toksoy]

Hi,

I Think you should try CBG banding, probably you'll see paint on that region as heterochromatin. İt seems to be duplication of 1q het. region (AS polymorphism). otherwise you can recheck with indication, if related with possible unbalanced anomaly, you can search der chr 1 on parental chromosomes.

Regards

G.Toksoy  

2012/2/7 Jern Bucha <jern....@gmail.com>

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[naresh mankena]

dear Jern

please find the below link

1q duplications

http://books.google.co.in/books?id=lhMkOz_vmDMC&pg=PA59&lpg=PA59&dq=1q+duplication+newborn&source=web&ots=gFIlUM_MjZ&sig=GLNo1pT8WQ_fOedvLgGXYuge8fQ&hl=en&sa=X&oi=book_result&resnum=7&ct=result

http://www.wrongdiagnosis.com/c/chromosome_1q_duplication_syndrome/intro.htm

thanks
naresh.m

[Maliszewska Chris (NHS TAYSIDE)]

Hello

 

Try the Atlas of Human Chromosome Heteromorphisms Edited by Wyandt and Tonk 2004 pp131-1132. C-banding should be helpful. You didn't give the referral reason, though.

 

Chris Maliszewska

Clinical Scientist (Deputy Head of Cytogenetics)

Ninewells Hospital, Dundee DD1 9SY

01382 496735

 

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From: cytogenetics-methods...@googlegroups.com [cytogenetics-methods...@googlegroups.com] On Behalf Of Jern Bucha [jern....@gmail.com]
Sent: 07 February 2012 10:09
To: cytogenetics-methods...@googlegroups.com
Subject: help with karyotype

Dear members, I need help with kariotype that I'm analysing at the moment. As you can see in attached picture, there is duplication-like anomaly in the q12 (?) region of human chr1. I cannot find any reference in literature so I ask you to suggest where should I look, or what additional test should I perform to solve this problem. Have you ever had anything similar? If so, how did you solve the problem. 

I will be very thankful for any suggestion and answer. 

regards,

J

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[Alvin Lim]

Hi Jern,

This is a very common polymorphic region. Unless there is a clinical indication related to the   band it is likely to be constitutive heterochromatin in nature. Parental karyotypes or siblings may show the same 1q12 region.

Best wishes,

Alvin Lim.

[laevsky ilana]

Hi Jern Bucha.I agree with G.Toksoy. Probably it's a heterochromatin's band. You can do C-banding, specific banding for heterochromatin regions. If you need a protocol, I'll sent you.

Regards

Ilana

[Mary Emanuel]

This a normal variant - C-band will tell all and the ISCN.
Cheers!

[ramakrishnan sasi]

If the patient is having a normal phenotype then most probably this can be considered be to due a chromosome 1q heteromorphism.   As suggested a C banding (constitutive heterochromatin banding) and parental chromosome studies are useful.
 

If I remember correctly  I did  see  an  infant with the same type of banding  patten   and  was found  that the same chromosome was  c-band positive and also  faithfully   inherited from a phenotypically normal parent

 

 

Thanks

 

Ramakrishnan Sasi,

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[Maliszewska Chris (NHS TAYSIDE)]

Sure - this is a normal variant - but if colleagues are having trouble interpreting this sort of thing, then I think it's nice to point them in the direction of literature in support of the finding.

 

 

Chris Maliszewska

Clinical Scientist (Deputy Head of Cytogenetics)

Ninewells Hospital, Dundee DD1 9SY

01382 496735

 

---

From: cytogenetics-methods...@googlegroups.com [cytogenetics-methods...@googlegroups.com] On Behalf Of ramakrishnan sasi [ramakris...@gmail.com]
Sent: 07 February 2012 16:14
To: cytogenetics-methods...@googlegroups.com

Subject: Re: help with karyotype

If the patient is having a normal phenotype then most probably this can be considered be to due a chromosome 1q heteromorphism.   As suggested a C banding (constitutive heterochromatin banding) and parental chromosome studies are useful.
 

If I remember correctly  I did  see  an  infant with the same type of banding  patten   and  was found  that the same chromosome was  c-band positive and also  faithfully   inherited from a phenotypically normal parent

 

 

Thanks

 

Ramakrishnan Sasi,

On Tue, Feb 7, 2012 at 5:09 AM, Jern Bucha <jern....@gmail.com> wrote:

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[Jern Bucha]

Thank you all for your valuable suggestions. 

regards,

J

[laevsky ilana]

I'm sure it's normal variant.

 

regards

Ilana

From: Jern Bucha <jern....@gmail.com>
To: cytogenetics-methods...@googlegroups.com
Sent: Wednesday, February 8, 2012 2:02 PM
Subject: Re: help with karyotype

[Jern Bucha]

worked like a charm. As more experienced cytogenetisist suggested, it was part of heterocromatin. Thank you all for your ideas, suggestions and help.

regards,

J

[soumya thomas]

pls try c banding once

Regards....

Soumya Thomas Elavunkal....

[laevsky ilana]

Hi, Jern,

 

I'm glad to help you.