Fwd:

[ritu rao]

Pls comment on chromosome 21. The spreads are from a one year old baby distinctive of downs ... some netqphases are also showing monosomy 21 

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From: Genetics Craft <craftg...@gmail.com>
Date: 8 July 2021 at 5:00:33 PM IST
To: ritu rao <rao...@gmail.com>

Thanks & Regards

Medical Genetics Department 

CRAFT Hospital & Research centre 

Kodungallur , India 

www.craftivf.com 

0480-2800267,7736260302

[K H Ramesh]

Dear Ritu:

In met pics #2 and the last one only does it look like ?t(21;21).  If you can please do metaphase and interphase FISH Analysis with the 21q probe.

In how many cells did you see the mono 21, and were they all from the same cultures or different cultures?

Best

Ramesh

 

K H Ramesh, Ph.D., ABMGG, FACMG

Professor of Pathology

Director of Clinical Cytogenetics & CytoGenomics

Montefiore Medical Center & Albert Einstein College of Medicine

1635 Poplar Street

Bronx, NY 10461

kra...@montefiore.org

7184058105 (W); 9143841117 (C); 7189313637 (F)

Adjunct Professor - MD Anderson Cancer Center, School of Health Professions

 

 

 

From: cytogenetics-methods...@googlegroups.com <cytogenetics-methods...@googlegroups.com> On Behalf Of ritu rao
Sent: Friday, July 9, 2021 4:26 AM
To: cytogenetics-methods...@googlegroups.com
Subject: Fwd:

 

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[Güven Toksoy]

Hi, 

it looks like small ring 21, its explain the mosaic status. I think, if you can do GTG banding with high resolution, you can see the ring form more clearly. Also, I recommend making an array. 

regards

Dr. Öğr. Üyesi Güven Toksoy, PhD

Tıbbi Genetik AD

İstanbul Tıp Fakültesi

İstanbul Üniversitesi

+90 212 4142000/32347

tok...@gmail.com.

guven....@istanbul.edu.tr

guven....@istanbul.edu.tr

tok...@gmail.com

ritu rao <rao...@gmail.com>, 10 Tem 2021 Cmt, 10:44 tarihinde şunu yazdı:

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[Paul Oei]

Looks like r(21).  Dynamic instability seen here would also fit with ring..   

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