Fwd: Abnormal X Chromosome

[Suguru Revathi]

Dear Sir/Madam,

Please suggest about the Abnormal X Chromosome seen in the Images,it is the case of 16 Years of female with not attained Menarche,No sexual Secondary characters formed & Infantile Uterus, Ovaries are streak.

Kindly help me out in this regard.

Thank you all

Revathi

Cytogeneticist

[Winnie Lam]

Hello, is it possible to be an pseudo isochromosome X? 

Karyotype: 46,X,psu idic(X)(q22)?

This is just a guess, because of unclear image. 

Hope can help. 

Winnie

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在 2021 年 2月 月 18 日 週四，時間： 20:37，Suguru Revathi

<revath...@gmail.com>寫道：

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[marinaf...@gmail.com]

Sirs,

Through the images (+/- 400 bands), it can be a duplication of the X chromosome itself or an insertion of a chromosome segment of unknown origin.

46, X, dupX) (q13q22) or 46, X, der (X) ins (X;?) (q13 ;?)

I think it is necessary to perform the karyotype of the parents and / or the use of other cytogenetic techniques to identify this segment.

Hope this helps,

Marina Franchini

Biologist - Cytogeneticist

Brazil

[Suguru Revathi]

Thank you all for great suggestions & still awaiting some more suggestions or comments. Herewith i am attaching some more images, please go through them also.

Regards

S V Revathi

Cytogeneticist

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[maria mouriki]

Have you run any additional tests on this patient (FISH with X subtelomeres probes or X chromosome paint, ACGH) or the parents (KARYOTYPE)?. In order to give a definite answer you must run some tests other than the karyotype. R u sure that there are no further abnormalities on this girl, like dysmorphism, mental retardation, congenital disorders? R the parents phenotypically normal? 

Maria 

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