Setyoriyono, Muhammad Farhan (2025) Gambaran Kelainan Kromosom pada Pasangan Infertilitas. [Tugas Akhir/Skripsi] (Unpublished)
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Abstract
Gambaran Kelainan Kromosom pada Pasangan Infertilitas Infertilitas adalah gangguan kesehatan reproduksi yang dapat mempengaruhi pasangan usia subur baik secara fisik maupun psikologis. Infertilitas dapat terbagi primer dan sekunder. Salah satu penyebab infertilitas adalah kelainan jumlah dan atau struktur kromosom. Tujuan penelitian ini adalah untuk mengetahui kelainan jumlah dan struktur kromosom pada pasangan dengan infertilitas primer dan sekunder. Penelitian ini menggunakan metode deskriptif observasional dengan pendekatan retrospektif, menggunakan data sekunder dari 26 individu (13 pasangan) yang menjalani pemeriksaan kariotipe di Laboratorium Genetika Fakultas Kedokteran Universitas Wijaya Kusuma Surabaya selama tahun 2019–2024. Hasil pemeriksaan penelitian ditemukan kelainan jumlah kromosom pada infertilitas primer yaitu Mosaik; 45,X (32%) / 46,XX (68%) dan tidak ditemukan kelainan jumlah kromosom pada infertilitas sekunder. Pada kelainan struktur kromosom pada infertilitas primer didapatkan kelainan translokasi, 46,XY,t(6;13)(q27;q32) dan 46,XX,t(7;18)(p14;p11.3) serta ditemukan kelainan struktur kromosom pada infertilitas sekunder yaitu heterokromatin (46,XY,9q12h). Saran pada penelitian ini adalah perlunya pengumpulan data yang homogen dengan cakupan lokasi yang heterogen agar ruang lingkup penelitian menjadi lebih luas dan data yang diperoleh bersifat lebih variatif serta representatif Kata kunci: Infertilitas, Kelainan Kromosom, Kariotip, Translokasi, Mosaik Turner Description of Chromosomal Abnormalities in Couples Infertility Infertility was a disorder of the reproductive system that affected couples of reproductive age both physically and psychologically. This condition was classified into primary and secondary infertility. One of the causes was abnormalities in the number and/or structure of chromosomes. This study aimed to identify chromosomal abnormalities, both numerical and structural, in couples with primary and secondary infertility. The research employed a descriptive observational method with a retrospective approach, using secondary data from 26 individuals (13 couples) who underwent kariotip examination at the Genetics Laboratory of the Faculty of Medicine, Wijaya Kusuma University Surabaya during the period of 2019–2024. The results showed numerical chromosomal abnormalities in primary infertility cases, with a mosaic kariotip of 45,X (32%) / 46,XX (68%), while no numerical abnormalities were found in secondary infertility cases. Regarding structural abnormalities, translocations were identified in primary infertility with kariotips 46,XY,t(6;13)(q27;q32) and 46,XX,t(7;18)(p14;p11.3), while in secondary infertility, a structural abnormality in the form of 9q12 heterochromatin (46,XY,9q12h) was found. The study suggested the need for data collection with more homogeneous subject characteristics and broader geographic coverage so that the data obtained would be more diverse, representative, and could expand the scope of the research. Keywords: Infertility, Chromosomal Abnormalities, Kariotip, Translocation, Turner Mosaic
| Item Type: | Tugas Akhir/Skripsi |
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| Uncontrolled Keywords: | Infertilitas, Kelainan Kromosom, Kariotip, Translokasi, Mosaik Turner Infertility, Chromosomal Abnormalities, Kariotip, Translocation, Turner Mosaic |
| Subjects: | R Medicine > R Medicine (General) R Medicine > RB Pathology R Medicine > RG Gynecology and obstetrics |
| Divisions: | Faculty of Medicine > Medicine Study Program |
| Depositing User: | Muhammad Farhan Setyoriyono |
| Date Deposited: | 13 Jan 2026 03:41 |
| Last Modified: | 13 Jan 2026 03:41 |
| URI: | http://erepository.uwks.ac.id/id/eprint/21920 |
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