• 대한유전성대사질환학회지
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• 제5권1호
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• pp.94-107
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• 2005

Prenatal diagnosis (PND) such as amniocentesis or chorionic villi sampling has been widely used in order to prevent the birth of babies with defects especially in families with single gene disorderor chromosomal abnormalities. Preimplantation genetic diagnosis (PGD) has already become an alternative to traditional PND. Indications for PGD have expanded beyond those practices in PND (chromosomal abnormalities, single gene defects), such as late-onset diseases with genetic predisposition, and HLA typing for stem cell transplantation to affected sibling. After in vitro fertilization, the biopsied blastomere from the embryo is analyzed for single gene defect or chromosomal abnormality. The unaffected embryos are selected for transfer to the uterine cavity. Therefore, PGD has an advantage over PND as it can avoid the risk of pregnancy termination. In this review, PGD will be introduced and application of PGD in inborn error metabolic disorder will be discussed.

• 대한임상검사과학회지
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• 제40권2호
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• pp.71-74
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• 2008

Chromosomal abnormalities of abortus have also been used to investigate the most common etiology of spontaneous abortion, but the frequency and the types of spontaneous abortions have also demonstrated considerable variation among in different countries and races. A cytogenetic analysis of 75 abortuses was performed at the GenDix, Inc. from January, 2006 to December, 2007. The frequency of chromosome abnormalities in abortus was 32.0% (24/75 cases). Among the chromosomal abnormalities, trisomy was 62.5% (15/24 cases) and the most frequent trisomy was trisomy 21 with 26.6% (4/15 cases). The average maternal age of normal and abnormal karyotypes was $34.1{\pm}3.3$ and $34.3{\pm}3.3$. Cytogenetic analysis of abortus is important for diagnosis and genetic counseling for parents with spontaneous abortion.

• Asian Pacific Journal of Cancer Prevention
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• 제16권16호
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• pp.7343-7350
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• 2015

Genetic changes associated with acute lymphoblastic leukemia (ALL) provide very important diagnostic and prognostic information with a direct impact on patient management. Detection of chromosome abnormalities by conventional cytogenetics combined with fluorescence in situ hybridization (FISH) play a very significant role in assessing risk stratification. Identification of specific chromosome abnormalities has led to the recognition of genetic subgroups based on reciprocal translocations, deletions and modal number in B or T-cell ALL. In the last twelve years 102 newly diagnosed childhood/adult ALL bone marrow samples were analysed for chromosomal abnormalities with conventional G-banding, and FISH (selected cases) using specific probes in our hospital. G-banded karyotype analysis found clonal numerical and/or structural chromosomal aberrations in 74.2% of cases. Patients with pseudodiploidy represented the most frequent group (38.7%) followed by high hyperdiploidy group (12.9%), low hyperdiploidy group (9.7%), hypodiploidy (<46) group (9.7%) and high hypertriploidy group (3.2%). The highest observed numerical chromosomal alteration was high hyperdiploidy (12.9%) with abnormal karyotypes while abnormal 12p (7.5%) was the highest observed structural abnormality followed by t(12;21)(p13.3;q22) resulting in ETV6/RUNX1 fusion (5.4%) and t(9;22)(q34.1;q11.2) resulting in BCR/ABL1 fusion (4.3%). Interestingly, we identified 16 cases with rare and complex structural aberrations. Application of the FISH technique produced major improvements in the sensitivity and accuracy of cytogenetic analysis with ALL patients. In conclusion it confirmed heterogeneity of ALL by identifying various recurrent chromosomal aberrations along with non-specific rearrangements and their association with specific immunophenotypes. This study pool is representative of paediatric/adult ALL patients in Oman.

• Asian Pacific Journal of Cancer Prevention
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• 제16권16호
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• pp.7219-7229
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• 2015

Background: Chromosomal aberrations identified in acute lymphoblastic leukemia (ALL) have an important role in disease diagnosis, prognosis and management. Information on karyotype and associated clinical parameters are essential to physicians for planning cancer control interventions in different geographical regions. Materials and Methods: In this study, we present the overall frequency and distribution patterns of chromosomal aberrations in both children and adult de novo B lineage ALL Indian patients using conventional cytogenetics, interphase FISH and multiplex RT-PCR. Results: Among the 215 subjects, cytogenetic results were achieved in 172 (80%) patients; normal karyotype represented 37.2% and abnormal 62.8% with a distribution as follows: 15.3% hypodiploidy; 10.3% hyperdiploidy; 15.8% t(9;22); 9.8% t(1;19); 3.7% t(12;21); 2.8% t(4;11); 2.8% complex karyotypes. Apart from these, we observed several novel, rare and common chromosomal rearrangements. Also, FISH studies using LSI extra-signal dual-color probes revealed additional structural or numerical changes. Conclusions: These results demonstrate cytogenetic heterogeneity of ALL and confirm that the incidence of chromosomal abnormalities varies considerably. To the best of our knowledge, this is one of the largest reported series of cytogenetic investigations in Indian B-lineage ALL cases. In addition, ongoing cytogenetic studies are warranted in larger groups of B-lineage ALL cases to identify newly acquired chromosomal abnormalities that may contribute to disease diagnosis and management.

• Clinical and Experimental Pediatrics
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• 제50권9호
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• pp.875-881
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• 2007

목 적 : 염색체의 구조 및 유전을 연구하는 학문인 세포유전학은 임상 진단, 생식 문제, 산전 진단, 종양, 유전자의 다형성 및 유전 상담에 있어 중요한 역할을 하고 있다. 이 연구는 단일 기관에서 시행된 말초혈액을 이용한 세포유전학 검사 결과를 검토하여 주요 염색체 이상의 양상과 빈도를 분석하였다. 방 법 : 1981년 5월부터 2005년 10월까지 25년간 경북대학교병원 소아과 염색체 검사실로 각 임상 진료과에서 염색체 이상이 의심되어 의뢰한 말초혈액 검체 4,856례를 대상으로 하여 염색체 핵형을 분석하였다. 결 과 : 총 4,856례 가운데 4,567례를 분석하였다. 이 중 소아는 3,014례(66.0%), 성인은 1,553례(34.0%)였으며, 검사를 의뢰한 가장 흔한 이유는 소아에서는 성장과 발달 장애, 성인에서는 생식 문제였다. 4,567례 중 염색체 이상은 770례(16.9%)에서 발견되었다. 염색체 이상 중 수적 이상은 558례(12.2%), 구조적 이상은 187례(4.1%)였으며, 취약부위나 염색체 파손과 같은 이상이 25례(0.5%)였다. 수적 이상 중 상염색체 이상은 Down 증후군이 294례(6.4%)로 가장 많았으며, Edwards 증후군 7례(0.2 %), Patau 증후군 4례(0.1%) 순이었다. 성염색체의 이상은 Klinefelter 증후군이 131례(2.9%)로 가장 많았고, Turner 증후군 99례(2.2%), XXX 증후군 8례(0.2%), XYY 증후군 3례(0.1%) 순이었다. 구조적 이상은 전위가 84례(1.8%)로 가장 많았다. 결 론 : 본 연구에서 염색체 이상 핵형의 유형과 그 양상을 파악하였으며, 적극적 세포유전학적 연구로 진료와 유전상담에 적용하여야 할 것이다.

• Clinical and Experimental Pediatrics
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• 제54권6호
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• pp.267-271
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• 2011

Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some cases, cardiac defects. The range and severity of symptoms and physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q. Most reported cases of duplication of the long arm of chromosome 15 frequently have more than one segmental imbalance resulting from unbalanced translocations involving chromosome 15 and deletions in another chromosome, as well as other structural chromosomal abnormalities. We report a female newborn with a de novo duplication, 15q24- q26.3, showing intrauterine overgrowth, a narrow asymmetric face with down-slanting palpebral fissures, a large, prominent nose, and micrognathia, arachnodactyly, camptodactyly, congenital heart disease, hydronephrosis, and hydroureter. Chromosomal analysis showed a 46,XX,inv(9)(p12q13),dup(15)(q24q26.3). Array comparative genomic hybridization analysis revealed a gain of 42 clones on 15q24-q26.3. This case represents the only reported patient with a de novo 15q24-q26.3 duplication that did not result from an unbalanced translocation and did not have a concomitant monosomic component in Korea.

• Clinical and Experimental Reproductive Medicine
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• 제13권2호
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• pp.153-159
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• 1986

The high rate of chromosomal abnormalities in patients with primary amenorrhea implies the need for routine screening for chromosomal abnormalities among such patients. This study was designed for the cytogenetic analysis of 236 patients with primary amenorrhea, which was referred to Yonsei University Medical Center, from January, 1, 1974 to December, 31, 1985. The results were as follows: 1. Of the 236 patients, 145 cases (61.4%) showed normal karyotype, and 91 cases (38.6%) showed chromosomal abnormalities. 2. Gonadal dysgenesis was found in 56 cases, consisting of 42 cases, Turner's syndrome, 12 cases, pure gonadal dysgenesis, and 2 cases mixed gonadal dysgenesis. a) Turner's syndrome was found in 42 cases, consisting of 18 cases of 45, X and 24 cases of mosaicism. b) Pure gonadal dysgenesis was found in 12 cases, consisting of 10 cases of 46, XX and 2 cases of 46, XY. c) Mixed gonadal dysgenesis was found in 2 cases, consisting of 1 case of 46, XY and 1 case of 45, X/46, XY. 3. Intersex was found in 80 cases, consisting of 35 cases of 46, XX, and 45 cases of 46, XY. 4. Congenital anomalies of reproductive system was found in 82 cases and all cases were normal karyotype.

• Clinical and Experimental Reproductive Medicine
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• 제50권3호
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• pp.192-199
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• 2023

Objective: This study was conducted to investigate chromosomal abnormalities and their correlations with clinical and radiological findings in females with primary amenorrhea (PA). Methods: Detailed forms were recorded for 470 females, including the construction of three-generation pedigrees. Peripheral venous blood was drawn, with informed consent, for cytogenetic analysis. Results: An abnormal karyotype was found in 16.38% of participants. The incidence of structural abnormalities (6.8%) exceeded that of numerical abnormalities (6.15%). Turner syndrome represented 45% of all numerical abnormalities. Furthermore, the Y chromosome was detected in 5% of females with PA. Among the structural chromosomal abnormalities detected (n=32) were mosaicism (25%), deletions (12.5%), isochromosomes (18.75%), fragile sites (3.12%), derivatives (3.12%), marker chromosomes (3.12%), and normal variants (29.125%). An examination of secondary sexual characteristics revealed that 29.6% of females had a complete absence of breast development, 29.78% lacked pubic hair, and 36.88% exhibited no axillary hair development. Radiological findings revealed that 51.22% of females had a hypoplastic uterus and 26.66% had a completely absent uterus. Abnormal ovarian development, such as the complete absence of both ovaries, absence of one ovary, one absent and other streak, or both streak ovaries, was observed in 69.47% of females with PA. Additionally 43.1%, 36.1%, 67.4%, and 8% of females had elevated levels of serum follicle-stimulating hormone, luteinizing hormone, thyroid-stimulating hormone, and prolactin, respectively. Conclusion: This study underscores the importance of karyotyping as a fundamental diagnostic tool for assessing PA. The cytogenetic correlation with these profiles will aid in genetic counseling and further management of the condition.

• Radiation Oncology Journal
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• 제11권1호
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• pp.43-50
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• 1993

방사선에의 노출은 염색체 이상을 유발하는 원인으로 널리 인식되고 있으나 in vivo상태에서 방사선 조사 후 발생되는 염색체 이상의 종류와 빈도 규명은 드물었다. 이에 본 연구에서는 암 환자에서 방사선 치료 전 및 후에 말초혈액 임파구의 염색체 변이를 비교 관찰하고 방사선 조사에 의해 암 환자세포에서 나타나는 염색체 이상에서 절단점의 분포가 암 발생과 밀접한 연관이 된 유전자 및 염색체의 재조합이 자주 일어나는 부위와 연관관계 가 있음을 규명하고자 하였다. 25예의 암 환자에서 방사선 치료가 시작되기 전과 $4000\~7000cGy$의 근치적 방사선치료가 끝난 직후 말초 혈액을 채취하여 임파구를 배양후 G-분염법을 이용하여 염색한 후 환자마다 방사선치료 전후로 각각 30개씩의 증기상을 관찰하였다. 치료전에 염색체 이상을 나타낸 세포 분열 중기상의 빈도는 $4.93\%$로 정상 대조군 집단의 빈도 $2\%$보다 높았다(p<0.05). 방사선 치료후 염색체 이상 세포의 빈도는 $22.13\%$로 치료전에 비해 매우 중가되었다(p<0.01). 또한 세포 중기상당 이상 염색체의 수도 치료전과 후가 각각 1.49및 2.14로 치료후 증가 되었다(p<0.05). 염색체 이상의 종류는 major chromosomal aberration 특히 구조적 이상의 빈도가 치료전보다 후에 $65.45\%$에서 $88.45\%$로 증가되었고 minor structural abnormality와 수적 변이의 빈도는 감소되었다. 방사선 치료후 염색체 절단점의 수가 2개 이상인 경우가 단일 절단점을 가진 이상에 비해 증가되었다. 절단점의 분포에 있어서는 암세포에서 가장 흔한 이상을 나타내는 1번 및 3번 염색체와 절단점의 증가가 암 발생관 연관된다고 보고된 8번 및 11번 염색체에서 본 연구결과 기대치 이상의 절단점의 분포를 보이고, 암 세포에서 드물게 이상을 나타내는 13, 15및 21번 염색체에서는 기대치 보다 감소된 절단점의 분포를 보였다. 따라서 방사선 치료 후 염색체 이상의 빈도는 증가되었으며 방사선 조사에 의해 나타나는 염색체의 절단점의 분포는 암 발생과 밀접한 연관이 된 유전자 및 염색체의 재조합이 자주 일어나는 부위와 밀접한 연관 관계가 있음을 보여 주었다.

• Journal of Genetic Medicine
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• 제16권2호
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• pp.76-80
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• 2019

About 15% to 20% of all clinically recognized pregnancies result in spontaneous abortion or miscarriage, and chromosomal anomalies can be identified in up to 50% of first trimester miscarriages. Chromosomal microarray analysis (CMA) is currently considered first-tier testing for detecting fetal chromosomal abnormalities and is supported by the absence of cell culture failure or erroneous results due to cell contamination in pregnancy loss. Triploidy is a lethal chromosome number abnormality characterized by an extra haploid set of chromosomes. Triploidy is one of the most common chromosomal aberrations in first trimester spontaneous abortions. Here, we report two cases of triploidy abortion that were not detected using array comparative genomic hybridization-based CMA. The aim of this report was to remind clinicians of the limitations of chromosomal testing and the misdiagnosis that can result from biased test selection.