• 한국패류학회지
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• 제13권2호
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• pp.125-130
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• 1997

The mitotic and meiotic chromosomes of Succineidae snail one species, Oxyloma hirasei(Pilsbry), were investigated by mians of air-drying mithod. The diploid chromosome numbers were n=18, 2n=36. Chromosome complements of this species consist of seven pairs of metacentrics and 11 pairs of submetacentric chromosomes. Spermatogonial metaphase chromosomes range in length from 4.80${\mu}{\textrm}{m}$ for the largest pair to 1.44${\mu}{\textrm}{m}$ for the smallest pair.

• Clinical and Experimental Pediatrics
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• 제57권6호
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• pp.292-296
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• 2014

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

• 한국산림과학회지
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• 제84권2호
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• pp.131-144
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• 1995

자웅이주(雌雄異株)이고, 단일종(單一種)(monotype)이며, 경제적(經濟的), 기능적(機能的)으로 유용(有用)한 은행(銀杏)나무의 염색체(染色體)의 구조(構造)와 자웅(雌雄) 성결정(性決定) 염색체(染色體)를 판별(判別)하기 위해서 은행(銀杏)나무(G. biloba)와 추상은행(銀杏)나무(G. biloba var. fastigiata)를 재료(材料)로 하여 전국(全國)에서 7개(個) 지역(地域), 26개체(個體)의 근단(根端)(root tip)을 시료(試料)로 염색체(染色體)를 관찰(觀察) 조사(調査)한 결과(結果)는 다음과 같다. 체세포(體細胞) 염색체(染色體)의 기본수(基本數)는 2n=24, 염색체(染色體)의 상대적(相對的) 길이는 긴 것이 $14.88{\sim}11.17{\mu}m$, 짧은 것이 $8.11{\sim}6.24{\mu}m$, 12쌍(雙)의 염색체(染色體) set는 1쌍(雙)의 m형(型)이며 긴 염색체(染色體)와 비교적(比較的) 짧으며 sm 또는 st형(型) 11쌍(雙)으로 구성(構成)되고, 짧은 염색체(染色體) group은 연속적(連續的) 변이(變異)를 한다. 제1(第一) 긴 염색체쌍(染色體雙)의 short arm에 Satellite가 존재(存在)하고 7번 또는 8번째(sm 또는 st형(型)), 염색체쌍(染色體雙)의 한 쪽 또는 양 쪽 long arm에 Satellite가 존재(存在)하거나, 또는 제일(第一) 짧은 st형(型) 염색체쌍(染色體雙) 양 쪽 또는 한 쪽 long arm에 Satellite가 존재(存在)하기도 한다. 은행(銀杏)나무(G. biloba)의 제일(第一) 긴 염색체쌍(染色體雙)에 있는 Satellite는 가끔 2중(二重) Satellite복립부수체(複粒附髓體)인 것이 관찰(觀察)되었으나, 추상은행(銀杏)나무(G. biloba var. fastigiata)에서는 이중(二重) Satellite가 관찰(觀察)되지 않았다. 행형식(核型式) $2n=24=2^{2s}A^m+2B^{st\;or\;sm}+2C^{st}+2D^{st}+2E^{st}+2F^{st\;or\;sm}+2G^{sm}+2^{2s}H^{sm}\;or\;(^{1s}H^{sm}+H^{sm})+2I^{st}+2J^{st}+2K^{st}+2^{2s}L^{st}\;or\;(^{1s}L^{st}+L^{st})$ 염색체(染色體) 구조상(構造上)으로는 암나무와 숫나무의 성염색체(性染色體) 구별(區別)이 확실하지는 않지만, 숫나무의 염색체(染色體)에서는 제일(第一) 긴 염색체쌍(染色體雙)의 한 쪽 염색체(染色體) short arm에 이중(二重) Satellite가 존재(存在)하나, 암나무에서는 존재(存在)하지 않는다. 대체적으로 작은 염색체(染色體) group에서 Satellite 염색체(染色體)가 2개(個) 있는 것은 숫나무보다 암나무에서 더 많이 관찰(觀察)되었다. 추상은행(銀杏)나무(G. biloba var. fastigiata)에서는 작은 염색체(染色體) group에서, 숫나무에서는 1개(個)의 Satellite chromosome만 관찰(觀察)되었다.

• 한국동물학회지
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• 제39권1호
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• pp.75-88
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• 1996

OTF9-63 (OTF9)와 P19S1O1A1 (P19) 배종양 세포들의 체세포에 존재하는 불화성 X 염색체의 재활성과 유발 능력을 조사하였다. 배종야 세포와 체세포들의 융합에 의해 얻어진 HATr 클론들의 형태, 염색체 복제 양상을 비롯하여 X 염색체에 존재하나 그 위치는 상당히 먼 유전자들인 Hprt와 Pgk-1의 발현 양상을 분석한 결과, OTF9 세포는 불활성 X 염색체를 재활성화 시킬 수 있는데 반해 P19 세포는 불가능한 것으로 나타났다. 또한, 모든 유합세포는 장기간 배양되었을 때 성염색체의 수가 감소하였으며, 결국 1:2의 성염색체:상염색체의 비율을 나타내었다. 배종양 세포-체세포 융합세포의 이용은 초기 배발생 과정에서 시작되어 난자형성 과정의 감수분열 전까지의 유지되는 X 념색체의 재활성화 기작을 연구하기 위한 실험 방법을 제공한다.

• Clinical and Experimental Pediatrics
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• 제48권1호
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• pp.108-111
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• 2005

20 환 염색체는 경한 외관상 기형, 정신 지체, 행동 장애, 난치성 간질을 동반하는 드문 염색체 이상 증후군이다. 저자들은 본원 소아과에 언어 발달 지연과 성장 발육 부전을 주소로 내원한 18개월 된 환자에서 말초혈액 염색체 및 FISH 검사를 통해 20 환 염색체 증후군으로 판명하였고 특징적인 난치성 간질 발작을 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.10-13
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• 2016

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

• 한국동물학회지
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• 제6권2호
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• pp.21-27
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• 1963

This study is concerned with alterations in chromosomes (numbers and morphology) when the culture of Chinese hamster cells (FAF-28 strain) was treated by steroids, testosterone and DOC. 1. In 200 cells of normal untreated cells as control population the chromosome of stemline was decided as which was contained in 158 cells ; that is , in 79 percent of the population. The average chromosome number in above 20 cells observed was calculated as 23.95 with minimum limit at 20 and maximum limit at 70. 2. Many different chromosome numbers, ranging from 19 to 352 were observed in the 200 cells treated by testosterone. The diploid number of 22 showed the peak of variation curve was counted in 71 cells (35.5%) and an average chromosome number of stemline was 22 which was counted in 74 cells (37%). While all of the chromosome number of stemline was 22 which was counted in 74 cells (37%). While all of the chromosome numbers in the 200 cells observed ranged from 20 to 181 , an average chromosome number was also found to be 30.09. 4. The chromosome component in the cultured normal FAF-28 cells with 22 diploid chromosomeswas as follows ; 9a) 2 paris were long and metacentric (LM), (b) 3 pairs were medium length and metacentric (MM), (c) 3 pairs were small and subtelocentric (SS) and (d) 3 pairs were small and metacentric (SM). 5. The twenty cells with 44 chromosomes were selected at random from each cell population treated with testosterone and DOC , so that chromosome idiogram and morphology could be studies. In the twenty cells of the testosterone treated population the average ratio of above four groups, LM ; MM;Ss:SM, was found to be 8.6 : 10.8:13.5:10.7. On the other hand, the average ratio in the same number of cells of the DOC treated one was 7.7 :11.4:12.5:12.7. 6. The five types of the altered chromosomes morphologically in the hundred cells selected at random from each cell population treated by testosterone and DOC were observed (Type I-V). The thirty-one altered chromosomes were found to be in the testosterone treated cell population and the sixteen in DOC treated.

• Clinical and Experimental Pediatrics
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• 제46권1호
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• pp.83-85
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• 2003

저자는 재태연령 30주, 출생체중 1,100 g의 미숙아에서 출생시 양안의 무안구증, 극심한 처짐, 양안 격리증, 낮은 코, 짧은 목, 저이개, 소악증, 양측성 뇌수종, 양손의 simian line이 관찰되었기에 시행한 임파구 배양 검사상 46, XX, del(6)(p23)의 소견을 보여 이탈점이 6p23으로 판명된 terminal deletion 6p23, 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• 대한본초학회지
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• 제25권1호
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• pp.1-7
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• 2010

Objectives : We investigated genetic toxicity of HMCO5 in relation to chromosome aberration test on Cultured Chinese Hamster Lung (CHL) in the presence and absence of S-9 mix. Methods : Experimental groups were divided into two groups: with S-9mix (+S) or without S-9 mix (-S). -S group was also divided 2 series by treatment hours (6 hr: 6-S; or 24 hr; 24-S). Each group treated with vehicle only (complete culture medium), HMCO5 (1,250, 2,500, $5,000\;{\mu}g/ml$), and cyclophosphamide monohydrate (CPA) and ethylmethanesulfonate (EMS), respectively. Results : HMC05 did not show any aberrant metaphase. However, there were significant (p < 0.01) aberrant metaphases with CPA in S+ and with EMS in S-. Conclusions : These results indicate that HMC05 formula does not show any toxicity in chromosome aberration test.

• 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.