45,X/47,XXX/46,XX karyotype in a normal female

[EVANGELIDOU Paola]

We have performed chromosomal analysis from Peripheral blood, on a 64 year old woman with normal phenotype, and her karyotype was 45,X[3]/47,XXX[3]/46,XX[44]. She has two daughters and their karyotype was 46,XX. How would this karyotype be explained? Loss of a sex chromosome could be age related. We found papers that talk about age- related sex chromosome gain, but the papers are really old. Could someone suggest how we could report this?

Thank you
Paola

[ESRA ATAMAN]

Hi Paola,

This result should be confirmed by increasing the amount of cell count. You can count interphase cells using X,Y CEP probe by FISH analysis. If the results of both tests are coherent, then you may consider this as a low-level mosaicism.

Best regards,

Esra

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[EVANGELIDOU Paola]

Thanks you for the reply. But as this result is from two cultures anyway it doesn’t change the fact that it is a low mosaic. Even if we count more cells the most we will end up, if we don’t find more abnormal cells, is that it will be considered really low mosaic.

[Elisabet Lloveras Caballe]

Hi,

perhaps you could to assess the possibility of to permorf a FISH analysis in buccal cells. However, I'm not sure if that information will be of clinical interest if the patient is 64 years old (??).

eli

 

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De: EVANGELIDOU Paola <pa...@cing.ac.cy>
Para: "cytogenetics-methods...@googlegroups.com" <cytogenetics-methods...@googlegroups.com>
Enviado: jue,10 febrero, 2011 10:28
Asunto: RE: 45,X/47,XXX/46,XX karyotype in a normal female

[Ramos Corrales Carmen]

Our experience in diferent woman pacients(DP;sterility...)is that there are a little porcentage of woman >37 y. that present mosaic cromosomic in relation with the lost of a chromosome X. whitout effect phenotipic. Never this event have been reflected in the report. CR

________________________________

________________________________

Hi Paola,

Best regards,

Esra

Thank you
Paola

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[chromosome artist]

Hi Paola,

It is not unusual to have mosaicism in peripheral blood and perhaps
even in the ovaries, but with enough normal cells in the ovaries to
produce normal eggs. We see women who come in for primary or
secondary infertility with similar mosaicism to the patient you've
seen. In some cases the ovaries might be completely normal and other
tissues may be normal or even more mosaic as there would be more
selection pressure on some tissues to require both Xs and others (like
blood) not so much. At this age, there is little difference for the
patient and her daughters are normal anyway since they would have come
from a normal egg. If you're really wanting to follow up, you could
try a skin sample and see what the level of mosaicism is in that
tissue.

Cheers,

Melanie

[EVANGELIDOU Paola]

Thank you Melanie for the info,

I was just aiming for feedback regarding how this should be reported. But Thank you all for the reply

Paola

-----Original Message-----
From: cytogenetics-methods...@googlegroups.com [mailto:cytogenetics-methods...@googlegroups.com] On Behalf Of chromosome artist
Sent: Monday, February 14, 2011 6:32 PM
To: Cytogenetics methods and trouble-shooting
Subject: Re: 45,X/47,XXX/46,XX karyotype in a normal female

Hi Paola,

Cheers,

Melanie

--

[katmon]

I would just report as abnormal karyotype but with no clinical
significance.
If she is normal female with a normal phenotype and two daughters why
did she have chromosomes done in the first place?

[Ellie Smith]

Good question
What did it say on the referral form?

Clinical Assoc. Professor Ellie Smith MB BS, DipRCPath, FHGSA, FRCPA
Senior Staff Specialist, Executive Officer, Department of Cytogenetics
t: 02 9845 3222 | f: 02 9845 3238 | e: ell...@chw.edu.au
The Children's Hospital at Westmead Clinical School

Cnr Hawkesbury Road and Hainsworth Street, Westmead
Locked Bag 4001, Westmead NSW 2145
w: www.chw.edu.au

-----Original Message-----
From: cytogenetics-methods...@googlegroups.com [mailto:cytogenetics-methods...@googlegroups.com] On Behalf Of katmon
Sent: Thursday, 17 February 2011 7:56 AM
To: Cytogenetics methods and trouble-shooting
Subject: Re: 45,X/47,XXX/46,XX karyotype in a normal female

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[EVANGELIDOU Paola]

Thank you for your answers. It is a good question why she was referred for chromosomal analysis. Her daughters were the ones needing chromosomal analysis, but apparently the physician requested one (accidentally I presume) for the mother as well.