• Clinical and Experimental Reproductive Medicine
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• 제26권3호
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• pp.467-474
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• 1999

Objectives: Cytogenetic investigations were carried out on 770 women with primary (n=560) and secondary amenorrhea (n=210) to determine the frequency of chromosomal or genetic causes of amenorrhea. Materials and Methods: In 770 women with primary amenorrhea (n=560) and secondary amenorrhea (n=210), chromosomal analysis were performed. Results: 1) The most prevalent age group is 16-20 years of age group with primary amenorrhea and 26-30 years of age group with secondary amenorrhea. 2) Out of 560 cases of primary amenorrhea, 343 cases (61.3%) had the normal chromosome constitution and 217 cases (38.7%) had the abnormal chromosome constitution including 46,XY. 3) In 217 cases of abnormal chromosome of primary amenorrhea, 57 cases (26.3%) had 45,X and 34 cases (15.8%) had the 46,XY, 24 cases (11.0%) had 45,X/46,X,i (Xq), 23 cases (10.6%) had 45,X/46,X,+mar and 14 cases (6.6%) had 45,X/46,XY. 4) Out of 210 cases of secondary amenorrhea, 181 cases (86.2%) had the normal chromosome constitution and 29 cases (13.8%) had the abnormal chromosome. 5) In 29 cases of abnormal chromosome of secondary amenorrhea, 7 cases (24.1%) had 45,X/46, X,i (Xq), 4 cases (13.8%) had 45,X/46,XX. Conclusion: High percentage of chromosomal abnormalities was diagnosed in primary amenorrhea and most of them were sex chromosome anomalies. In secondary amenorrhea, the prevalence was lower than primary amenorrhea, so a preselection of patients with secondary amenorrhea for cytogenetic investigations seems to be necessary.

• Asian Pacific Journal of Cancer Prevention
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• 제15권9호
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• pp.3907-3909
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• 2014

Background: Cytogenetic abnormalities have important implications in diagnosis and prognosis of acute leukemia and are now considered an important part of the diagnostic workup at presentation. Karyotype, if known at the time of diagnosis, guides physicians to plan appropriate management strategies for their patients. Aim and Objectives: To determine the cytogenetic profile of acute lymphoblastic leukemia (ALL) in Pakistani children in order to have insights regarding behavior of the disease. Materials and Methods: A retrospective analysis of all the cases of ALL (<15years old) diagnosed at Aga Khan University from January 2006 to June 2011 was performed. Cytogenetic analysis was made for all cases using the trypsin-Giemsa banding technique. Karyotypes were interpreted using the International System for Human Cytogenetic Nomenclature (ISCN) criteria. Results: A total of 153 patients were diagnosed as ALL during the study period, of which 127 samples successfully yielded metaphase chromosomes. The male to female ratio was 1.8:1. A normal karyotype was present in 51.2% (n=65) of the cases whereas 48.8% (n=62) had an abnormal karyotype. Most of the abnormal cases showed hyperdiploidy(13.4%) followed by t(9;22)(q34;q11.2) (7.08%). Conclusions: This study revealed a relative lack of good prognostic cytogenetic aberrations in Pakistani children with ALL.

• Imaging Science in Dentistry
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• 제43권2호
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• pp.129-134
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• 2013

Turner syndrome (TS) is one of the most common chromosomal abnormalities, with an estimated frequency among female live births of 1/2,000-3,000. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). We reported a unique case of a 40-year-old woman with TS accompanying unexpected elongated styloid process specific to Eagle syndrome (ES) and followed up-prolactinoma. The present article is the first report to define the cone-beam computed tomographic (CBCT) features of TS accompanying ES. Patients with TS carry various risks that make treatment more complicated; thus advanced imaging techniques for proper treatment and follow-up are extremely important. In the light of CBCT examination, craniofacial abnormalities specific to TS and accompanying syndromes such as the crowding of teeth especially in the maxillary anterior region caused by maxillary narrowness, micrognatic maxilla and mandible, relative mandibular retrusion, malocclusion, open-bite, and an elongated styloid process (length of 32.7 mm) on the right side were illustrated in detail.

• Journal of Plant Biology
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• 제37권1호
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• pp.69-76
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• 1994

담배연기 수용성 물질 및 그 추출성분인 니코틴과 카테콜이 식물의 근단세포에 미치는 영향을 구명하기 위하여 양파(allium cepa L.)의 근단에 처리한 결과 식물세포에 유독한 영향을 미쳤으며 농도가 높을수록 염색체 이상은 증가하는 반면 분열지수는 점점 감소하는 경향을 보여주었다. 염색체 이상은 중기에서 polyploid, c-mitosis, stickness, 후기나 말기에 laggard나 bridge, 중간기에 micronucleus나 abnormal nucleus 등이 나타났다. 이러한 성분들을 각각 24시간 처리하였을 때 담배연기 수용액은 29.7%, 니코틴 15.8%, 카테콜 13.0%으로 염색체 이상을 유발시켰다.

• Clinical and Experimental Reproductive Medicine
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• 제24권3호
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• pp.393-398
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• 1997

Cytogenetic analysis was performed in 1321 couples and 141 women with history of abnormal reproductive outcome during 1988-1996. The use of high resolution banding technique and fluorescence in situ hybridization (FISH) in the chromosome analysis has made the precise evaluation of chromosome aberrations. The prevalence of balanced chromosomal translocation carriers were 3.74% (104/2783 patients). 70 cases (2.52%) were reciprocal translocation carriers and 34 (1.22%) had Robertsonian translocations. Chromosome aberrations were more frequent in women (73 cases) than in men (31 cases). No phenotypical abnormalities were found in all carriers, but they experienced abnormal reproductive outcomes such as recurrent spontaneous abortions, anomalous offsprings or infertility problem. Prenatal diagnosis was carried out on 36 subsequent pregnancies in balanced translocation carriers. The fetal karyotypes showed that 12 cases (33%) were normal, 22 (61%) were balanced translocations, and two (6%) were unbalanced translocations. It is concluded that the prevalence of balanced chromosomal translocations in patients with abnormal reproductive outcome is higher than that of the normal population. Most of the fetal samples showed normal karyotypes or balanced translocations. Although the incidence of chromosomal imbalance in the fetuses was relatively low in prenatal diagnosis, individuals with balanced translocations are predisposed to abnormal offspring with partial trisomy or monosomy. Therefore we recommend that genetic counselling and cytogenetic prenatal diagnosis for translocation carriers have to be offered to prevent recurrent chromosomal abnormal babies.

• Clinical and Experimental Pediatrics
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• 제52권4호
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• pp.481-487
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• 2009

목 적 : 본 연구는 단일 기관에서 혈역학적으로 의미 있는 선천성 심기형을 가진 극소 저체중 출생아의 임상경과와 치료성적 및 예후 인자를 알아보고자 하였다. 방 법 : 1994년 11월부터 2007년 12월까지 13년간 삼성서울병원 신생아 집중치료실에 입원하였던 출생 체중 1,500 g 미만의 극소 저체중 출생아 1,098명을 대상으로 의무기록을 후향적으로 조사하였다. 선천성 심기형을 가진 대상아 33명의 임상경과, 합병증, 예후를 조사하였고 이들을 대조군 1,065명과 비교하였다. 결 과 : 총 극소 저체중 출생아 1,098명 중 33명(3%)에서 선천성 심기형이 있었으며, 이들 중 7명(21%)에서 선천기형 및 염색체 이상을 동반하였다. 심기형 종류로는 심실 중격 결손이 21명(64%)으로 가장 많았다. 자궁 내 성장 지연은 심기형군이 대조군에 비해 높았으나(34% vs. 20%), 재태기간, 출생체중, 신생아 호흡 곤란 증후군, 기관지폐 형성 이상, 괴사성 장염, 뇌실내 출혈, 그리고 낭종성 뇌실주위 백질 연화증의 빈도는 심기형군과 대조군 사이에 차이가 없었다. 심장수술은 단순 심기형에서 4명(19%), 복합 심기형에서 9명(75%)에게 시행되었고, 9명(69%)이 다단계 수술을, 10명(77%)은 조기 중재시술을 받았다. 심기형군의 사망률은 대조군에 비해 증가되어 있었고(27% vs. 16%), 특히 염색체 이상 및 다발성 기형을 동반한 경우에만 증가되었고(86% vs. 11%), 그 외 단순, 복합 심기형 여부(19% vs. 42%)와는 상관관계가 없었다. 결 론 : 극소 저체중 출생아에서 발생한 선천성 심기형의 예후는 심기형 자체의 복합성 보다는 동반된 선천 기형 및 염색체 이상이 결정한다.

• Asian Pacific Journal of Cancer Prevention
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• 제15권21호
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• pp.9495-9498
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• 2014

Background: The difference in prognosis of adult and childhood acute lymphoblastic leukemia (ALL) can be attributed largely to variation in cytogenetic abnormalities with age groups. Cytogenetic analysis in acute leukemia is now routinely used to assist patient management, particularly in terms of diagnosis, disease monitoring, prognosis and risk stratification. Knowing about cytogenetic profile at the time of diagnosis is important in order to take critical decisions in management of the patients. Aim and Objectives: To determine the frequency of cytogenetic abnormalities in Pakistani adult patients with ALL in order to have insights regarding behavior of the disease. Materials and Methods: A retrospective analysis of all the cases of ALL (${\geq}15$years old) diagnosed at Aga Khan University from January 2006 to June 2014 was performed. Phenotype (B/T lineage) was confirmed in all cases by flow cytometry. Cytogenetic analysis was made for all cases using the trypsin-Giemsa banding technique. Karyotypes were interpreted using the International System for Human Cytogenetic Nomenclature (ISCN) criteria. Results: A total of 166 patients were diagnosed as ALL during the study period, of which 151 samples successfully yielded metaphase chromosomes. The male to female ratio was 3.4:1. The majority (n=120, 72.3%) had a B-cell phenotype. A normal karyotype was present in 51% (n=77) of the cases whereas 49% (n=74) had an abnormal karyotype. Of the abnormal cases, 10% showed Philadelphia chromosome; t(9;22)(q34;q11.2). Other poor prognostic cytogenetic subgroups were t(4;11)(q21;q23), hypodiploidy (35-45 chromosomes) and complex karyotype. Hyperdiploidy (47-57 chromosomes) occurred in 6.6%; all of whom were younger than 30 years. Conclusions: This study showed a relatively low prevalence of Philadelphia chromosome in Pakistani adults with ALL with an increase in frequency with age (p=0.003). The cumulative prevalence of Philadelphianegative poor cytogenetic aberrations in different age groups was not significant (p=0.6).

• Clinical and Experimental Reproductive Medicine
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• 제25권2호
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• pp.135-140
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• 1998

It was reported that the etiologies of recurrent spontaneous abortion are immunologic factors, endocrinologic problems, anatomical abnormalities, genetic abnormalities, infection, and unexplained factors. Among those etiologic factors, genetic abnormalities occur in about 5% of the couples who experience recurrent spontaneous abortions, and most common parental chromosomal abnormality contributing to recurrent abortion is balanced translocation. The advent of in vitro fertilization (IVF), the development of skills associated with the handling of human embryo, and an explosion of knowledge in molecular biology have opened the possibility of early diagnosis of genetic disease in preimplantation embryos. Therefore preimplantation genetic diagnosis (PGD) is indicated for couples, infertile or not, at risk of transmitting a genetic disease. A case of successful pregnancy and term delivery by PGD using fluorescence in situ hybridization (FISH) technique in patient with recurrent spontaneous abortion due to balanced translocation is presented with brief review of literatures.

• Journal of Genetic Medicine
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• 제1권1호
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• pp.1-3
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• 1997

Nager syndrome is a rare malformation complex characterized by facial, limb, and skeletal morphogenesis. The mode of inheritance has not been definitely established. Major karyotypic abnormalities were seldom associated with this syndrome. We report on an infant with Nager acrofacial dysostosis that was associated with 45,X monosomy. This baby was born to a 36-year-old multigravid woman after 37 weeks of gestation and with maternal hydramnios. The baby girl died of airway obstruction due to retruded tongue 3 hours after birth. Phenotypically, this this patient had mandibulofacial dysostosis, radioulnar synostosis, hypoplasia and aplasia of thumbs, peripheral edema and apparently normal genital organs. We confirmed that major chromosomal anomaly including 45,X monosomy could be associated with Nager syndrome, although its pathogenetic significance remains unanswered.

• 보건의료산업학회지
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• 제6권4호
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• pp.83-98
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• 2012

The objective of this study is to analyze the utilization patterns of national health insurance and medical aid inpatients in tertiary hospitals. For the analysis, the study utilize the nationwide data on '2010 Survey of Patients' of Ministry of Health & Welfare. The statistical methodology used in the study is the logistic regression model. This study has three major findings. First, utilization rate of national health insurance inpatients was higher than medical aid inpatients in tertiary hospitals. Second, the significant affecting demographic factors in utilizing tertiary hospitals were sex, age, surgery case, treatment result, inpatients residence region and short length of stay. Third, compared to other disease groups, the inpatients on 'congenital malformation, deformity and chromosomal abnormalities', 'factors influencing health status and contact with health services' and 'neoplasm' groups are more likely to utilize tertiary hospitals. Finally, according to residence region, Seoul residence inpatients in both of national health insurance and medical aid more likely to utilize tertiary hospitals than other region inpatients.