• Journal of Yeungnam Medical Science
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• 제34권1호
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• pp.80-83
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• 2017

A number of research papers have reported more frequent occurrence of rheumatic/autoimmune disease among patients with hypogonadism or a chromosomal anomaly with potential X-chromosome defects. A 30-year-old female patient came to the hospital with a main cause of bilateral buttock pain, which began two years ago and worsened seven days ago. Ankylosing spondylitis with invasion of both sacral-iliac joints was observed. On magnetic resonance imaging, although the uterus was observed normally, an ovary was not observed. In a chromosome test, balanced reciprocal X-1 translocation of 46,X,t(X;1)(p10;q10) was diagnosed. Here, we report on the first case involving ankylosing spondylitis accompanied by balanced reciprocal X-1 translocation.

• Clinical and Experimental Pediatrics
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• 제50권3호
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• pp.311-315
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• 2007

선천성 고위 견갑골과 두개안면기형, 심기형, 척추기형이 동반된 신생아에서 3번과 17번 염색체의 균형전좌를 확인하였으며 이는 국내 첫 번째 사례로 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Reproductive Medicine
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• 제26권3호
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• pp.475-481
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• 1999

Objective: The purpose of this investigation is to determine the frequency of chromosomal or genetic causes of recurrent spontaneous abortion. Methods: A cytogenetic study was made in of 921 couples for 13 years from January 1984 to December 1997 in which the woman was ascertained to have had two or more spontaneous abortions at our Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University. Results: The overall incidence of chromosome anomaly was 80 out of 921 (8.7%). There were 34 cases (3.69%) of reciprocal balanced translocation and 13 cases (1.41%) of Robertsonian translocation. Also 17 cases (1.85%) of inversion and 5 cases (0.54%) of X chromosome mosiacism was observed. In the case of reciprocal balanced translocation, chromosome 8,6,7,13 were preferentially involved over others. And in the case of Robertsonian translocation, chromosome 13 was preferentially involved. Conclusion: Our study demonstrates that cytogenetic analysis is indicated in couples with 2 or more spontaneous abortion and about half of these disorders are reciprocal balanced or Robertsonian translocations.

• 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.

• Neonatal Medicine
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• 제17권1호
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• pp.127-131
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• 2010

저자들은 저긴장증과 다발성 선천성 기형을 보인 신생아에서 염색체 검사 및 FISH로 확인된, 부계의 균형적 전좌에 의한 Emanuel 증후군 1례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Journal of Genetic Medicine
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• 제9권1호
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• pp.35-37
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• 2012

Emanuel syndrome is a rare genomic syndrome which is characterized by multiple congenital anomalies and developmental disability. This syndrome is related to the presence of the supernumerary derivative chromosome originating from both chromosome 11 and 22. In most cases, one of the parents is a balanced carrier of a translocation. Our case results from 3:1 meiotic segregation of the maternal translocation carrier and is a rare case in Korea confirmed by genetic analysis.

• Journal of Genetic Medicine
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• 제18권1호
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• pp.48-54
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• 2021

Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies evaluated using chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). The patient was born at 30 weeks and 2 days of gestation with a body weight of 890 g. He had symmetric intrauterine growth restriction, microcephaly, facial dysmorphism (hypertelorism, blepharophimosis, mild low-set ears, high-arched palate, and micrognathia), and right thumb polydactyly. Echocardiography revealed an atrial septal defect and patent ductus arteriosus. Furthermore, CMA revealed a concurrent microdeletion in 3p26 and a microduplication in 5q35.2q35.3. FISH analysis showed that these genetic changes resulted from a translocation mutation between chromosomes 3 and 5. The patient's mother had mild intellectual disability, short stature, and facial dysmorphism, while his father had a normal phenotype. However, parental FISH analysis revealed that the asymptomatic father carried a balanced translocation of chromosomes 3p26 and 5q35. CMA and FISH tests are useful for diagnosing neonates with multiple congenital abnormalities. Further parental genetic investigation and proper genetic counseling are necessary in cases of chromosomal abnormalities inherited from parental balanced translocations.

• Clinical and Experimental Pediatrics
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• 제48권7호
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• pp.701-705
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• 2005

목 적 : 부모에게서 받은 유전정보는 자손의 유전표현에 필수적인 역할을 한다. 만일 어머니나 아버지로부터 받는 유전자가 서로 전좌가 일어날 경우 자손에게 부여되는 유전정보는 충분하지 않거나 필요이상으로 많이 받게 되어 자손에게 임상적 문제점을 일으킬 수가 있다. 임상적으로 정상인 부모로부터 태어나 정신발달이상과 행동발달지연을 보인 한 가족의 세포 유전학적인 연구와 임상 소견들을 관찰하여 원인규명과 앞으로의 예후를 평가할 목적으로 이 연구를 실시하였다. 방 법 : 대상 환아는 충남대학교병원 소아과에 입원한 11세의 여아와 가족의 총 5명으로 하였다. 환자의 병력청취와 이학적 검사, 가족력조사를 시행하였으며 원인을 밝히기 위하여 염색체 분석, FISH, 대사질환 분석, 정신 사회학적 검사인 소아정신과 상담과 치료받은 기록 및 사회성숙도 검사, 심리평가, EEG를 실시하였고, 성장발달검사를 위해 혈액검사와 방사선학적 검사, 내분비 검사를 시행하였다. 결 과 : 염색체 검사는 환아의 아버지와 언니는 정상이었고 환아의 어머니는 임상적으로 정상이었지만, 46, XX. t(15,18)(p11.2;p11.3)을 보였고, 남동생은 복부비만, 과식, 난폭한 행동, 괴성, 주의력 산만, 학습장애, 언어 발달 지연 등의 임상 소견을 보이면서 46, XY der(15) t(15;18)(p11.2;p11.3)이며 환아는 46, XX. der(18) t(15;18)(p11.2;p11.3)로 대사이상 검사상 미토콘드리아 기능 저하를 의심할 수 있는 소견과 내분비 검사상 성장호르몬 결핍소견을 보였고, 운동 및 신경정신과적 발달 검사상 행동발달 지연, 언어발달 지연, 사회성 발달지연 및 중등도의 정신 지체를 보였다. 결 론 : 정상인 아버지와 임상적으로 정상이면서 균형전좌(balanced translocation)인 46, XX. t(15,18)(p11.2;p11.3)를 갖는 어머니로부터 태어난 자녀들이 염색체 15번 장완과 18번 장완의 비균형 전좌(unbalanced translocation)로 인해 이형성(dysmorphogenesis)을 유발하고, 뇌의 전반적인 기능저하, 얼굴 모양의 기형, 성장지연, 면역력의 저하 등 다양한 임상소견을 보임을 알 수 있었다.

• Journal of Genetic Medicine
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• 제2권2호
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• pp.59-63
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• 1998

Between 1988-1998, cytogenetic analyses were performed for 1,476 couples and 162 women with recurrent abortions. We applied GTG-banding, high resolution-banding and FISH (fluorescent in situ hybridization) techniques in this study. The frequency of balanced translocations was 3.6% (112/3114). Of them, 74 cases (2.38%) were reciprocal translocations and 38 (1.22%) were robertsonian translocations. Chromosome aberrations were more frequent in women (80 cases) than in men (32 cases). No phenotypical abnormalities were found in all carriers who had experienced recurrent spontaneous abortions or experienced giving birth to malformed offsprings. Prenatal cytogenetic analyses were carried out on 40 subsequent pregnancies for carrier couples with balanced translocation. The fetal karyotypes showed that 13 cases (32.5%) were normal, 25 (62.5%) were balanced translocations, and two (6%) were unbalanced translocations. It is believed that the frequency of chromosomal abnormalities in patients with recurrent spontaneous abortion is higher than that of the normal population. Most of the fetal samples showed normal karyotypes or balanced translocations matching that of one of their parents. Although the incidence of chromosomal imbalance in the fetuses was relatively low in prenatal cytogenetic analysis, individuals with balanced translocations are predisposed to giving birth to malformed offsprings with partial trisomy or monosomy. Therefore, we recommend the cytogenetic and the prenatal cytogenetic analysis for those who experiences recurrent abortion as well as in case they become pregnant, to prevent the birth of offsprings with chromosomal abnormalities.

• 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.