Need comments about two karyotypes

[MDMBAcan]

Hello everyone, I need comments regarding two karyotypes with detected abnormalities in different two patients. Thanks in advance

Patient1: A patient with recurrent pregnancy loss. It seems like a classical inv (9), but i can not define the break points. The enlarged qh region is confusing me.

Patient2: A patient with developmental delay. First, i have suspected 18p del, however microarray resulted as normal. Do you notice anything abnormal? 

[Güven Toksoy]

Hi, 

Case1: 46,XY,inv(9)(p11q13)   (inverted part has heterochromatic duplication)

Case2: 46,XY (increased pericentromeric heterochromatin, its polymorphic variant, it can be differentiated by CBG banding,  can be written as  "46,XY,18pcenh+"   if desired to be specified in the karyotype.  Similar pericentromeric heterochromatin gains are usually seen on chr 17p, chr 19p and rarely on other chromosomes and can be distinguished by CBG banding

regards

Doç. Dr. Güven Toksoy

Tıbbi Genetik AD

İstanbul Tıp Fakültesi

İstanbul Üniversitesi

Assoc Prof.Dr. Güven Toksoy (PhD)

Tıbbi Genetik Anabilim Dalı

İstanbul Tıp Fakültesi

İstanbul Üniversitesi

+90 212 4142000/35034

tok...@gmail.com .

güven.t...@istanbul.edu.tr

MDMBAcan <berka...@gmail.com>, 19 Ağu 2024 Pzt, 14:40 tarihinde şunu yazdı:

Hello everyone, I need comments regarding two karyotypes with detected abnormalities in different two patients. Thanks in advance

Patient1: A patient with recurrent pregnancy loss. It seems like a classical inv (9), but i can not define the break points. The enlarged qh region is confusing me.

Patient2: A patient with developmental delay. First, i have suspected 18p del, however microarray resulted as normal. Do you notice anything abnormal? 

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[MDMBAcan]

Dear professor, 

Thank you so much for sharing your experience.

Regards

21 Ağustos 2024 Çarşamba tarihinde saat 13:58:24 UTC+3 itibarıyla Güven Toksoy şunları yazdı:

[Cleide Borovik]

Patient 2 - look at 7q and 5q also

Cleide L. Borovik

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