Inversion in chromosome 11

[manisha desai]

Dear all,

A case having multiple miscarriages and IUI failures was referred for chromosomal analysis, One of the chromosome 11 is altered suspecting pericentric inversion [46,XY,inv(11)(p15q13)]. Karyotypes attached.

Please give your expert opinion and oblige.

Thanks and regards 

Manisha 

[Sara Frias]

Dear Manisha,

I agree with what you propose, however, because the short arms of the inverted chromosome are very small, I think that the break in q must be very proximal to the centromere, it can be q12.3 or q 3.1, and the break point in the short arm looks distal, maybe 11p15.5 .

My opinion.

Sara Frias

Dra. Sara Frias Instituto Nacional de Pediatría México /Instituto de Investigaciones Biomédicas UNAM Insurgentes Sur 3700-C, CP 04530, Col. Insurgentes-Cuicuilco, Mexico D.F., México. Phone: Lab and FAX(5255)10845533, e-mail sara...@yahoo.com sara...@biomedicas.unam.mx

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[Dominiqu...@radboudumc.nl]

Dear Manisha,

 

I fully agree that the most probable explanation for the aberrant chromosome 11 is a pericentric inversion. There is quite a large risk that a cross-over occurs during meiosis I within the inversion loop of both chromosomes 11 and this will subsequently result in relatively large duplications and deletions of short, or long arm of chromosome 11 which is probably not compatible with life thus explaining the miscarriages.

Regards,

Dominique

http://www.humangenetics.nl

http://www.genomediagnosticsnijmegen.nl/

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[manisha desai]

Thank you so much for your immediate response and valuable opinion. This surely helped us a lot. 

Thank you and regards,

Manisha J Desai 

To view this discussion on the web visit https://groups.google.com/d/msgid/cytogenetics-methods-and-trouble-shooting/1238387388.230218.1616705781195%40mail.yahoo.com.

[manisha desai]

Dear Dr. Dominique

Thank you so much for your immediate response and valuable opinion. This surely helped us a lot. 

Thank you and regards,

Manisha J Desai 

To view this discussion on the web visit https://groups.google.com/d/msgid/cytogenetics-methods-and-trouble-shooting/a10d3dd33a80462b95ef0c4f88c9fe79%40Umcexchp03.umcn.nl.