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COMMENT ON “A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION”

Yıl 2024, Cilt: 87 Sayı: 3, 265 - 266, 19.07.2024
https://doi.org/10.26650/IUITFD.1457603

Öz

Dear Editor,
We have read the article entitled “A partial trisomy 9 case with dicentric chromosome due to the adjacent-2 segregation of maternal reciprocal translocation” by Urtekin et al. published in the Journal of Istanbul Faculty of Medicine (1). This paper is exceptional because the offspring of adjacent-2 segregation being born alive is a rarity. Although the authors have been careful with the details of each aspect, we would like to comment on certain possible theoretical imbalances, especially those caused by tertiary segregations. The authors state that adjacent-2 segregation is one of the few cases in which the infant is born alive with dysmorphic features as it results in trisomy/monosomy of chromosome 22 with partial deletion/duplication of chromosome 9. Moreover, in 3:1 segregation, there are two possibilities of disomy 22 with duplication and deletion of chromosome 9 derived from the tertiary monosomy/trisomy segregation pattern and that most gestational products will be monosomic or double trisomic for chromosomes 9 and 22 (interchange monosomy/trisomy products).
As the authors have correctly indicated, in this translocation, adjacent-1 segregation ironically results in gametes with greater imbalance than adjacent-2 segregation. Nonetheless, in tertiary 3:1 segregations, the only possibility for disomy of chromosome 22 is caused by gametes with 24 chrmosomes retaining der(9). Such gametes will additionally have a disomy of 9q22.31-pter, whereas those with 24 chromosomes and der (22) will have a disomy of 9q22.31-qter only. The gametes with 22 chromosomes retaining der(22), namely -9, will have virtually complete nullisomy for chromosome 22 and nullisomy for 9q22.31-pter, and those retaining der(9), that is -22, will be nullisomic for 9q22.31-qter only. In such cases, the hypothetical offspring of these gametes will not conform to the expected imbalance in tertiary 3:1 segregation. However, the interchange aneuploidies would be the same as those for any other reciprocal translocation (trisomy or monosomy for each chromosome) and not monosomy or double trisomy, as suggested by the authors.

Etik Beyan

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Destekleyen Kurum

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Proje Numarası

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Teşekkür

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Kaynakça

  • Urtekin E, Kayhan G, Kazancioglu E, Yirmibes Karaoguz M. A partial trisomy 9 case with dicentric chromosome due to the adjacent-2 segregation of maternal reciprocal translocation. J Ist Faculty Med 2022;85(2):279-84. doi:10.26650/IUITFD.1038997 [CrossRef] google scholar
Yıl 2024, Cilt: 87 Sayı: 3, 265 - 266, 19.07.2024
https://doi.org/10.26650/IUITFD.1457603

Öz

Proje Numarası

Not applicable

Kaynakça

  • Urtekin E, Kayhan G, Kazancioglu E, Yirmibes Karaoguz M. A partial trisomy 9 case with dicentric chromosome due to the adjacent-2 segregation of maternal reciprocal translocation. J Ist Faculty Med 2022;85(2):279-84. doi:10.26650/IUITFD.1038997 [CrossRef] google scholar
Toplam 1 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Sağlık Hizmetleri ve Sistemleri (Diğer)
Bölüm Editöre Mektup
Yazarlar

Juan Pablo Meza Espinoza 0000-0003-2621-7649

Verónica Judith Picos Cárdenas 0000-0002-4320-9619

Evelia Leal Ugarte 0000-0002-0527-0726

Proje Numarası Not applicable
Yayımlanma Tarihi 19 Temmuz 2024
Gönderilme Tarihi 23 Mart 2024
Kabul Tarihi 29 Mart 2024
Yayımlandığı Sayı Yıl 2024 Cilt: 87 Sayı: 3

Kaynak Göster

APA Meza Espinoza, J. P., Picos Cárdenas, V. J., & Leal Ugarte, E. (2024). COMMENT ON “A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION”. Journal of Istanbul Faculty of Medicine, 87(3), 265-266. https://doi.org/10.26650/IUITFD.1457603
AMA Meza Espinoza JP, Picos Cárdenas VJ, Leal Ugarte E. COMMENT ON “A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION”. İst Tıp Fak Derg. Temmuz 2024;87(3):265-266. doi:10.26650/IUITFD.1457603
Chicago Meza Espinoza, Juan Pablo, Verónica Judith Picos Cárdenas, ve Evelia Leal Ugarte. “COMMENT ON ‘A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION’”. Journal of Istanbul Faculty of Medicine 87, sy. 3 (Temmuz 2024): 265-66. https://doi.org/10.26650/IUITFD.1457603.
EndNote Meza Espinoza JP, Picos Cárdenas VJ, Leal Ugarte E (01 Temmuz 2024) COMMENT ON “A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION”. Journal of Istanbul Faculty of Medicine 87 3 265–266.
IEEE J. P. Meza Espinoza, V. J. Picos Cárdenas, ve E. Leal Ugarte, “COMMENT ON ‘A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION’”, İst Tıp Fak Derg, c. 87, sy. 3, ss. 265–266, 2024, doi: 10.26650/IUITFD.1457603.
ISNAD Meza Espinoza, Juan Pablo vd. “COMMENT ON ‘A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION’”. Journal of Istanbul Faculty of Medicine 87/3 (Temmuz 2024), 265-266. https://doi.org/10.26650/IUITFD.1457603.
JAMA Meza Espinoza JP, Picos Cárdenas VJ, Leal Ugarte E. COMMENT ON “A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION”. İst Tıp Fak Derg. 2024;87:265–266.
MLA Meza Espinoza, Juan Pablo vd. “COMMENT ON ‘A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION’”. Journal of Istanbul Faculty of Medicine, c. 87, sy. 3, 2024, ss. 265-6, doi:10.26650/IUITFD.1457603.
Vancouver Meza Espinoza JP, Picos Cárdenas VJ, Leal Ugarte E. COMMENT ON “A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION”. İst Tıp Fak Derg. 2024;87(3):265-6.

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