Fwd:

[ritu rao]

Pls comment on the spreads. Is it 1 and 17 translocation

Sent from my iPhone


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[Dominiqu...@radboudumc.nl]

Dear Ritu,

It indeed presents like a reciprocal translocation between the short arms of a chromosome 1 and 17. Was the reason for referral repeated abortions? If so this would fit and explain the abortions.

Regards,
Dominique, Nijmegen

-----Oorspronkelijk bericht-----
Van: cytogenetics-methods...@googlegroups.com <cytogenetics-methods...@googlegroups.com> Namens ritu rao
Verzonden: woensdag 1 december 2021 6:28
Aan: cytogenetics-methods...@googlegroups.com
Onderwerp: Fwd:

Pls comment on the spreads. Is it 1 and 17 translocation

Sent from my iPhone


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[Güven Toksoy]

Hi,

In my opinion, if cryptic changes are ignored, this can be considered a t(1;17)(p34.?;p13?)  reciprocal translocation. Chromosomes in high resolution are required to determine the sharper breakpoints. The reason for the patient's arrival, karyotypes of parents and the age of the patient are also important factors in interpretation.

regards

Doç. Dr. Güven Toksoy

Tıbbi Genetik AD

İstanbul Tıp Fakültesi

İstanbul Üniversitesi

+90 212 4142000/35034

tok...@gmail.com.

guven....@istanbul.edu.tr

ritu rao <rao...@gmail.com>, 1 Ara 2021 Çar, 11:41 tarihinde şunu yazdı:

Pls comment on the spreads. Is it 1 and 17 translocation

Sent from my iPhone


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