Male Karyotype with Iso X chromosome

[surya prakash]

Dear all,

             I am attaching karyotype images of  30 years  male with azoospermia . We got result of one  Iso X chromosome and normal Y chromosome with total chromosome number of 46. ( both A&B tubes).  Please comment on mechanism  of Iso X in male , please share relevant  paper  . 

Note : YCMD is negative .

 

[Fatma SILAN]

Dear Surya

qf pcr may be helpful for origin of iso X... 

best 

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[Güven Toksoy]

Hi,

Is there a clinical findings except azospermia? This der X may not be i(X), it could be a der(X)t(X;X?)(p22.1?;q22.3?). I recommend you get better banded resolution and Arm specific painting FISH of Xp and Xq. ( X is misplaced in the last picture, replaced with chromosome 2).

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

surya prakash <suryaprak...@gmail.com>, 22 Oca 2021 Cum, 05:27 tarihinde şunu yazdı:

Dear all,

             I am attaching karyotype images of  30 years  male with azoospermia . We got result of one  Iso X chromosome and normal Y chromosome with total chromosome number of 46. ( both A&B tubes).  Please comment on mechanism  of Iso X in male , please share relevant  paper  . 

Note : YCMD is negative .

 

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[Dominiqu...@radboudumc.nl]

Dear Surya,

 

Probably this is not an iso X chromosome but merely a duplication of for instance the distal part of Xq sitting on top of the Xp. You could proof this by applying FISH and/or microarray.

By the way, in the last cell chromosome 2 and X are switched.

 

Best regards,

 

Dominique Smeets, Nijmegen

Genome Diagnostics

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[Orsetta Zuffardi]

Dear Surya,
I don't think the abnormal chrX is an isochromosome for the long arm. 

Rather, it appears to be an X chromosome to which something else is attached to the distal short arm. 

If the proband is azoospermic and has no other problems, it is probably a piece of the Y chromosome. 

What other techniques can you use to better investigate the case?

best

orsetta zuffardi

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Orsetta Zuffardi
Professor Emeritus of Human Genetics
Department of Molecular Medicine
University of Pavia
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Tel: +39 0382 987733
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[Sara Frias]

Dear Suria,

I suggest to be sure it is an isochromosome of X. Is it possible for you to perform FISH studies?  painting of X chromosome would be very useful, to identify an isochromosome or a translocation X;?

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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[Alberto Plaja]

Total loss of p arm is incompatible with life. Also in the karyotypes with better resolution (Iso (X) .jpg-5 and Iso X.jpg (abnormal X chromosome is ordered as left chromosome 2) both telomeric regions have subtle but clear band pattern differences. So it is not an isochromosome Xq. Banding pattern has no allow further characterization, but the relatively normal phenotype suggest probably a partial chromosome X duplication.

Alberto

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Alberto Plaja

Unitat d'Arrays. Àrea de genètica clínica i molecular

Módul Blau (Pta. baixa)

Hospital Universitari Vall d'Hebron

Passeig de la Vall d’Hebron, 119-129 - 08035 Barcelona - Spain

( 93 4893000 ext 3790

----------------------------

Professor associat

Unitat de Biologia Cel•lular i Genètica Mèdica
Facultat de Medicina
Universitat Autònoma de Barcelona
Bellaterra 08193. Barcelona

[surya prakash]

Thank you for your comments.