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"This guide represents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice, numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC."

"In general, it was assumed that the chromosome aberration induced by ionizing radiation is proportional to the chromosome size. From this viewpoint, the higher chromosome size, the more resistant to radiation. However, different opinions, in which chromosomes are particularly sensitive or resistant to radiation, are also still followed until now. Here in this research, we compared the chromosome sensitivity between chromosomes number 1, 2, and 4 using the FISH (fluorescence in situ hybridization) technique. From this research, we expect that the information obtained could show clearly whether a longer chromosome is more frequently involved in translocations and also more resistant to radiation than a shorter one. The type of chromosome aberration considered was limited only to translocation and we used one sample donor in order to avoid donor variability. The whole blood from a healthy female was irradiated with γ-rays with doses of 1, 3 and 5 Gy, respectively. Isolated lymphocytes from the whole blood were then cultured for 48 hours. After the culture process was completed, preparations of harvest and metaphase chromosomes were carried out. Chromosomes 1, 2, and 4 were stained with different fluorochromes. The translocation of each chromosome at each dose point was subsequently evaluated from 50 images obtained from an automated metaphase finder and capturing system. An additional analysis was performed to identify which chromosome arm was more frequently involved in translocation. Further analyses were also conducted with the aim of determining which chromosome band had a higher frequency of radiation-induced breakage. The experimental results showed that chromosome number 4 was more frequently involved in translocations compared to chromosomes 1 and 2 at 5 Gy. In contrast, at doses of 1 and 3 Gy translocations involving chromosomes number 1 and 2 were more numerous compared to the ones involving chromosome 4. However, if the number of translocation was accumulated for all the doses applied, the chromosome number 4 was the chromosome most frequently involved in translocations. Breakpoint analysis revealed that in chromosome 1, chromosome 2, and chromosome 4, the highest chromosome bands as break position were in band q32, p13, and q21, respectively. It can be concluded that chromosome 4 is more sensitive to radiation in all doses point, despite having less DNA content than chromosomes 1 and 2. Thus, it was showed that our research cannot support the general assumption about chromosome aberration induced by radiation being proportional to DNA content."

"Pendahuluan : Di Indonesia, menurut Biro Pusat Statistik, persentase penggunaan benzena terhadap seluruh bahan kimia yang digunakan oleh sektor Industri diperkirakan sebesar 20-40%. Pada industri minyak dan gas, para pekerja terpajan benzena dalam waktu yang lama, sehingga ada kemungkinan menderita efek toksik benzena berupa gangguan metabolisme lemak, dalam hal ini trigliserida pada pekerja terpajan benzena rendah dengan dan tanpa patahan kromosom limfosit. Penelitian ini bertujuan untuk mengetahui perbedaan rerata kadar trigliserida pada pekerja terpajan benzena rendah dengan dan tanpa patahan kromosom limfosit dalam kurun waktu 1 tahun (2011-2012, serta pengaruhnya terhadap faktor sosiodemografi dan pekerjaan. Metode : Penelitian ini menggunakan disain kohort retrospektif. Tempat penelitian dilakukan di sebuah industri migas X. Jumlah sampel yang memenuhi kriteria inklusi den eksklusi adalah 99 orang. Pengumpulan data dilakukan dengan menggunakan data sekunder, yaitu data kepegawaian dari bagian SDM dan data pemeriksaan kesehatan berkala pekerja tahun 2011 dan 2012. Analisis bivariat dengan uji kemaknaan chi square. Hasil : Rata-rata perubahan kadar trigliserida dengan patahan kromosom limfosit tahun 2011-2012 yaitu 2,52 sedangkan rata-rata perubahan kadar trigliserida tanpa patahan kromosom limfosit tahun 2011-2012 yaitu 7,08. Kesimpulan dan Saran : Hipotesis diterima karena : rerata perubahan perbedaan kadar trigliserida dengan patahan kromosom limfosit lebih rendah dibandingkan rerata perubahan perbedaan kadar trigliserida tanpa patahan kromosom limfosit pada tahun 2011 dan 2012. Pada pekerja dengan patahan kromosom limfosit dengan kadar rata-rata trigliserida tinggi atau normal perusahaan melakukan pemeriksaan kadar trigliserida minimal 6 bulan sekali.

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Introduction: In Indonesia, pursuant to Central Statistics Bureau, percentage of benzene utilization upon all chemical material used by Industrial sector was estimated at 20-40%. In oil and gas industry, workers exposed to benzene for a long time, thereby there is a possibility to suffer benzene toxic effect in form of fat metabolism disorder, in this regard triglycerides in workers exposed to low benzene with and without lymphocyte chromosome breakage. The purpose of this research is to understand the different of average levels of triglycerides in workers exposed to low benzene with and without lymphocyte chromosome breakage in period of 1 year (2011-2012), and its affect to socio demographic and work.

Method: This research is using retrospective cohort design. Place of research is in oil and gas industry of X. The amount of sample that comply with inclusion and exclusion criteria is 99 peoples. Data collection was conducted by using secondary data, that is employment data form the Human Resources division and workers? periodic health examination in year of 2011 and 2012. Bivariate analysis with chi square significant test.

Results: Average level change of triglyceride with lymphocyte chromosome breakage in year of 2011-2012 is 2.52 while average level change of triglyceride without lymphocyte chromosome breakage in year of 2011-2012 is 7.08.

Conclusion and Recommendation: Hypothesis is accepted due to: different average change of triglyceride levels with lymphocyte chromosome breakage is lower than the average change of triglyceride levels without lymphocyte chromosome breakage in year of 2011 and 2012. For workers with lymphocyte chromosome breakage with high average levels of triglyceride or normal, a company performs examination of triglyceride levels at least every 6 months."

"ABSTRACTAt the department of Biology - University of Indonesia, the use of a modified von Hemel procedure in slide processing often gives incomplete metaphases due to chromosome losses during the processing. This study is to know the percentage of the incomplete metaphases, to test if the chromosome loss is influenced by chromosome size, and how far all of these will give rise to a false diagnosis. The material is a harvest of fixated blood culture from five normal female patients (46,XX). Slides were prepared from the material and "R-band" stained. Then we analyzed and searched for 115 metaphases with only one chromosome loss that could be analyzed. The result shows that 64.19 % out of 1303 metaphases were incomplete, and 9.29 % or 121 metaphases with only one chromosome loss. It is found that each chromosome has different probability of loss which depends on the size of chromosome. The smaller the chromosome, the greater the chance of loss, but all of these do not lead to any false diagnosis. Chromosome Loss During Slide Processing Using a Modified Von Hemel Procedure;Chromosome Loss During Slide Processing Using a Modified Von Hemel Procedure"

"Penelitian transformasi fragmen DNA Xanthomonas campestris ke dalam Escherichia coli DH5αα, digunakan vektor plasmid Escherichia coli (pUC19). DNA kromosom diisolasi dengan metoda CTAB. DNA plasmid diisolasi dengan metoda alkali lisis. Kedua sumber DNA dipotong menggunakan enzim restriksi EcoRI. Sel kompeten disiapkan dengan CaCl2, transformasi menggunakan metoda kejutan panas.Hasil transformasi didapatkan sebanyak 5 koloni putih (yang mengandung fragmen DNA), dengan frekuensi transformasi sebesar 1,22 x 10-8 koloni putih/sel kompeten. Elektoforesis agarosa menunjukkan variasi ukuran DNA fragmen sebesar 0,5 ? 7,5 kb. Penelitian lebih lanjut perlu dilakukan dengan pembuatan pustaka genom untuk mendapatkan hasil transformasi yang lebih banyak.

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Research on DNA transformation of Xanthomonas campestris into Escherichia coli DH5αα using plasmid vector Escherichia coli (pUC19). was carried out. DNA chromosome was isolated using CTAB method, alkali lysis method was used to isolate DNA plasmid. Both of DNA plasmid and chromosome were digested using restriction enzyme EcoRI. Competent cell was prepared with CaCl2 and heat shock method for transformation procedure.The result revealed transformation obtain 5 white colonies, with transformation frequency was 1,22 x 10-8 colony/competent cell. Electrophoresis analysis showed the DNA fragment (insert) in range 0.5 ? 7,5 kb. Further research should be carried out to prepare the genomic library to obtain better result of transformant."

"The chromosome is a set of DNA structure that carry information about our life. The information can be obtained through Karyotyping. The process requires a clear image so the chromosome can be evaluate well. Preprocessing have to be done on chromosome images that is image enhancement. The process starts with image background removing. The image will be cleaned background color. The next step is image enhancement. This paper compares several methods for image enhancement. We evaluate some method in image enhancement like Histogram Equalization (HE), Contrast-limiting Adaptive Histogram Equalization (CLAHE), Histogram Equalization with 3D Block Matching (HE+BM3D), and basic image enhancement, unsharp masking. We examine and discuss the best method for enhancing chromosome image. Therefore, to evaluate the methods, the original image was manipulated by the addition of some noise and blur. Peak Signal-to-noise Ratio (PSNR) and Structural Similarity Index (SSIM) are used to examine method performance. The output of enhancement method will be compared with result of Professional software for karyotyping analysis named Ikaros MetasystemT M . Based on experimental results, HE+BM3D method gets a stable result on both scenario noised and blur image.Kromosom adalah kumpulan struktur DNA yang membawa informasi makhluk hidup. Informasi yang dapat diperoleh dengan proses Kariotyping. Proses ini membutuhkan citra yang jelas sehingga kromosom dapat dievaluasi dengan baik. Preprocessing harus dilakukan pada citra kromosom melalui penajaman citra. Proses ini dimulai dengan menghapus latar belakang citra. Langkah berikutnya ialah penajaman citra menggunakan metode image enhancement. Makalah ini membandingkan beberapa metode untuk peningkatan citra. Kami mengevaluasi beberapa metode dalam peningkatan gambar seperti Histogram Equalization (HE), Contrast-limiting Adaptive Histogram Equalization (CLAHE), Histogram Equalization with 3D Block Matching (HE+BM3D), dan unsharp masking. Penulis mengevaluasi dan membahas metode terbaik untuk meningkatkan citra kromosom. Oleh karena itu, untuk mengevaluasi metode, gambar asli dimanipulasi dengan penambahan beberapa kebisingan dan blur. Peak Signal-to-noise Ratio (PSNR) and Structural Similarity Index (SSIM) digunakan untuk mengukur kinerja metode. Hasil penajaman dari metode-metode yang dievaluasi akan dibandingkan dengan hasil software profesional untuk analisis kariotipe bernama Ikaros Metasystem T M . Berdasarkan eksperimen diperoleh hasil bahwa HE + BM3D merupakan metode yang paling stabil pada kedua skenario baik citra mengandung noise maupun citra yang kabur."

"Gen-gen yang penting dalam spermatogenesis telah dipetakan pada beberapa regio kromosom Y dan dinamakan AZF. Mikrodelesi AZF menghilangkan kandidat gen yang berperan pada spermatogenesis, menyebabkan kondisi oligozoospermia. Penelitian pada beberapa negara menunjukkan kecenderungan mikrodelesi AZF dipengaruhi faktor ras dan lingkungan. Penelitian ini bertujuan untuk mengetahui frekuensi serta kandidat gen yang paling sering mengalami mikrodelesi pada pria oligozoospermia di Jakarta. Desain penelitian ini deskriptif potong lintang molekuler, memeriksa beberapa regio AZF dengan PCR menggunakan STS spesifik. Dari penelitian ini, frekuensi mikrodelesi AZF pria oligozoospermia sebesar 4,3%. Sementara kandidat gen yang paling sering mengalami mikrodelesi dideteksi oleh STS sY239 dan sY1196.

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Genes important to spermatogenesis on Y chromosome have been mapped and named AZF. Microdeletion in these regions remove genes candidate, causing oligozoospermic state. Studies in many countries showing tendencies that AZF microdeletions affected by race and environmental factors. The objective of this study is to know AZF regions microdeletions frequentation and genes candidate experiencing most microdeletion in oligozoospermic male in Jakarta. This study uses molecular descriptive cross sectional design, examining AZF using PCR with some specific STS. The result of this study reveals AZF microdeletions frequentation in oligozoospermic male is 4,3%. Genes candidates most often experiencing microdeletion are sY239 and sY1196 in oligozoospermic men and sY1196 in azoospermic men."