Antw: mosaic marker chromosome in prenatal diagnosis
Thomas Liehr
for marker chromosomes check the web page
http://www.fish.uniklinikum-jena.de/sSMC.html
All 4500 available studied and characterized sSMC cases are collected - 63 sSMC derived from #16 are reported.
For the case you have there are some comparable ones which did not show any clinical signs.
Best regards
PD Dr. Thomas Liehr
Institut für Humangenetik
und Anthropologie
Postfach
D-07740 Jena
Germany
Tel: 49 3641 9355-33 (office)
or -35 or -89 (lab)
or 01 (secretary of the Inst.)
Fax: 49 3641 935582
e-mail: i8l...@mti.uni-jena.de
www: http://www.humangenetik.uniklinikum-jena.de/Molekulare_Zytogenetik.html
page about small supernumerary marker chromosomes = sSMC:
http://www.med.uni-jena.de/fish/sSMC/00START.htm
multicolor fluorescence in situ hybridization (mFISH) literature:
http://www.med.uni-jena.de/fish/mFISH/mFISHlit.htm
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>>> EVANGELIDOU Paola <pa...@cing.ac.cy> 11.02.12 11.12 Uhr >>>
Hello all,
I would like to request what is the Group's experience with the presence of mosaic marker chromosome identified in prenatal diagnosis, (originally on CVS, then confirmed on Amnio), identified to have chromosome 16 origin by array CGH. The copy number gain from the array analysis (Oligo array 2x105K used) is from 16p11.1 to 16p11.2 and it is approximately 5.27Mb in size. The marker is de novo in origin and it was confirmed by FISH analysis with whole chromosome paint probes. With the means available it cannot be determined whether this is actually a marker or ring chromosome. The literature on such marker chromosomes is poor and in my 16 year experience in prenatal diagnosis this is the first time we come across a marker with chromosome 16 origin. The presence of the marker is 66% in CVS and 56% in amnio and there were no ultrasound findings on the First trimester screening. Cytogenetic prenatal diagnosis was requested by the physician following prenatal diagnosis for the B- Thalassemia national screening program.
Any experience shared on this will be greatly appreciated.
Thanks
Paola
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EVANGELIDOU Paola
Thank you
Paola
________________________________________
From: cytogenetics-methods...@googlegroups.com [cytogenetics-methods...@googlegroups.com] On Behalf Of Thomas Liehr [Thomas...@mti.uni-jena.de]
Sent: Saturday, 11 February, 2012 12:44
To: cytogenetics-methods...@googlegroups.com
Subject: Antw: mosaic marker chromosome in prenatal diagnosis