• Title/Summary/Keyword: Chromosome 9

Search Result 539, Processing Time 0.029 seconds

A Case of an Addition of Chromosome 9 Short Arm Associated with Multiple Congenital Anomalies (다발성 기형을 동반한 염색체 9번 단완 첨가 1례)

  • Chang, Seung-Go;Yu, Jae-Eun;Park, Moon-Sung;Lim, Yun-Ju;Yoon, Soo-Han;Hong, Jeong
    • Neonatal Medicine
    • /
    • v.15 no.2
    • /
    • pp.200-206
    • /
    • 2008
  • Human chromosome 9 is characterized by a high degree of morphologic heteromorphisms, including variation in the size of the heterochromatin. We present a case of a de novo short arm addition of chromosome 9, [46, XY, add(9)(p13)], associated with multiple anomalies, including trigonocephaly, upward slant of the palpebral fissures, patent ductus arteriosus, pulmonary hypertension, hypertrophic cardiomyopathy, umbilical hernia, ambiguous genitalia, and sensorineural hearing and visual loss. This mutation affects the pericentric region of the heterochromatin. This patient exhibited a clinically important breakpoint of the heterochromatic region of chromosome 9 short arm and the associated anomalies.

Suppressing Effects of Tannic Acid on UVB induced Chromosome Aberrations in Chinese Hamster Lung Cells (자외선(UVB)에 의한 염색체이상과 Tannic acid의 방어효과)

  • 김정현;맹승희;임철홍;안령미
    • Environmental Mutagens and Carcinogens
    • /
    • v.17 no.1
    • /
    • pp.17-22
    • /
    • 1997
  • We observed the frequency of chromosome aberrations induced by UVB irradiations, and the suppressing effect of tannic acid on chromosome aberrations induced by UVB irradiations in CHL cells, which is a phenolic compound, a hydrolysate of tannin and a components of green tea. UVB doses used for the frequency of chromosome aberrations were from 0.2 to 1.6 KJ/m$^2$ and tannic acid concentrations were from 1.16 $\mu$g/ml to 37.50 $\mu$g/ml. For the observation of suppressing effect of tannic acid on UVB-induced chromosome aberrations, UVB dose was 1.6 KJ/m$^2$ and tannic acid concentrations were 1.0, 2.0, 4.0 $\mu$g/ml. In our study, tannic acid was treated for 24 hours in CHL, cells after UVB irradiation without S9 mix or for 6 hours with S9 mix. From this study, we obtained the following results : (1) The frequency of chromosome aberrations UVB induced were dose-dependently increased. (2) The tannic acid did not induce chromosome aberrations in cultured Chinese hamster cells. (3) UVB-induced chromosome aberrations were suppressed by tannic acid at every concentration from 1.0 $\mu$g/ml to 4.0 $\mu$g/ml with or without metabolic activation. These results suggest that the tannic acid acts as an inhibitor to UVB-induced clastogenicity of the cultured cell.

  • PDF

Study on the Somatic Chromosome Numbers of Korean Aster L. and Its Allied Taxa (한국산 개미취속 및 근연 분류군의 체세포염색체수에 관한 연구)

  • 정규영
    • Korean Journal of Plant Resources
    • /
    • v.10 no.4
    • /
    • pp.292-299
    • /
    • 1997
  • The somatic chromosome numbers among the various taxonomic characters about 17 taxa in Korean Aster and its allied taxa were investigated to review accurate scientific name and taxonomic rank. The somatic chromosome numbers of the treated taxa were invariable in same taxa, but variable among different taxa. The treated taxa were divided into two types by basic chromosome numbers, one type was x=9, the other x=8 and x=9 type was subdivided by polyploidy. The somatic chromosome numbers of Aster altaicus var. uchiymae, A. hyatae, Kalimeris chejuensis were reported firstly in this study, and based upon somatic chromosome numbers and leaf morphology, the plants, idenified as Aster pinnatifidus in Korea was considered variant of Kalimeris incisa.

  • PDF

The Study of G- Banding Chromosome in Silkie (오골계의 염색체 분염법 (G-banding)에 따른 핵형분석에 관한 연구)

  • 강태석;오봉국;손시환
    • Korean Journal of Poultry Science
    • /
    • v.12 no.2
    • /
    • pp.83-87
    • /
    • 1985
  • This experiment was carried out to identify the chromosomes of silkie. It was many difference from other breeds in morphology and characteristics. In this experiment, chromosomal analysis was used early embryos. In aspect of morphological chromosomes, chromosomal size and shape are similar to other breeds. The chromosomes of silkie were shown to morphlogy as follows. They were identified that chromosome #l and #2 were grouped as submentacentric, #3, #5 and #6 were telocentric #4 and #7 were acrocentric and #8 was metacentric chromosome. Zㆍsex chromosome was shown 5th, W-sex chromosome was 8th to 9th and they were metacentric chromosome, respectively. Each chromosome through the G-banding was shown the 3 dark bands in 1 p2, distinct light band in 1p1, dark band in 2p2, broad light band in 3pl, dark band from centromere and distal part in 4th chromosome and dark band in 5pl. Z-sex chromosome was shown dark at p-arm distal part.

  • PDF

Control of X Chromosome Reactivation and Determination of the Ratio of Sex Chromosome to Autosome in Embryonal Carcinoma Cell-Somatic Cell Hybrids (배종양 세포와 체세포 간의 융합 세포에서 X 염색체 재활성화의 조절과 성염색체에 대한 상염색체 비율의 결정)

  • 이광호
    • The Korean Journal of Zoology
    • /
    • v.39 no.1
    • /
    • pp.75-88
    • /
    • 1996
  • OTF9-63 (OTF9) and P19S1O1A1 (P19) embryonal carcinoma (EC) cells were examined for their ability to produce the readivation of inactive X chromosomes from somatic cells. They were hybridized with various somatic cells and resulting HATr EC-somatic cell clones were analysed for their morphology, chromosomal replication pafterns and expression proffies of X-linked and distantiy located genes, Hprt and Pgk-1. The results demonstrated that 0RF9 cells could reactivate the inactive X chromosome whereas P19 cells could not. In adition, EC-somatic cell hybrids tended to reduce the number of sex chromosomes in long-term culture, resulting m 1:2 ratio of sex chromosomes to autosomes The use of EC cell hybrids provides an experimental system for studying the mechanism(s) of the X-reactivatio that is initiated and maintained from meiotic prophase of oogenesis to early embryogenesis.

  • PDF

Relationship between the DNA content of human chromosome and their contribution to radiation-induced chromosome aberration analysed by fluorescence in situ hybridization(FISH) (방사선에 의한 염색체이상과 DNA 함량과의 관계)

  • Chung, Hai-Won;Kim, Su-Young;Ha, Sung-Whan;Kim, Tae-Hwan;Cho, Chul-Koo
    • Journal of Radiation Protection and Research
    • /
    • v.26 no.2
    • /
    • pp.101-111
    • /
    • 2001
  • To study the relationship between the DNA content of human chromosomes and their involvement in radiation-induced structural chromosome aberrations, the frequencies of translocations and dicentrics induced in human lymphocytes after in vitro exposure to 2Gy of x-tay were analysed by fluorescence in situ hybridization(FISH). Single whole chromosome probes(WCP), specific for chromosomes 1, 2, 4, 7, 8, 9, and 21 and triple combination of probes tot chromosome 1, 2 & 4 were used separately. A significant deviation of the frequency of symmetrical translocation and dicentrics from a DNA-proportional distribution was observed. Chromosomes 2, 7, 8, 9 and 21 were less frequently involved in the formation of symmetrical translocations and dicentrics than expected, whereas chromosomes 1 and 4 were more frequently involved. Chromosome 2 and 4 showed a higher frequency of acentric fragments. When triple combination probe for chromosome 1, 2 & 4 was used, no differences were found between the observed and expected frequency of exchange type aberrations. The results showed that the frequency of radiation-induced chromosome aberrations was not proportional to DNA contents, suggesting the difference in the susceptibility to specific aberrations among individual chromosomes. The results also indicated that the FISH technique with combination of probes for chromosome 1, 2 & 4 was useful for radiation biodosimetry.

  • PDF

A Chromosome Aberration Test of HMC05 on Cultured Chinese Hamster Lung Cells (HMC05의 배양 Chinese Hamster Lung 세포를 이용한 염색체이상 시험)

  • Shin, Heung-Mook
    • The Korea Journal of Herbology
    • /
    • v.25 no.1
    • /
    • pp.1-7
    • /
    • 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.

Karyotype Analysis of Anemarrhena asphodeloides Bunge (지모의 핵형 분석)

  • Kim, Soo-Young;Koo, Dal-Hoe;Bang, Jae-Wook
    • Korean Journal of Medicinal Crop Science
    • /
    • v.10 no.2
    • /
    • pp.144-146
    • /
    • 2002
  • Cytogenetic analysis of Anemarrhena ashodeloides BUNGE, which is one of medicinal plants belonging to Haemodoraceae was carried out using Feulgen staining. The somatic metaphase chromosome number was identified to 2n=22 (x=11) and the size of chromosomes ranges from $1.27-3.80\;{\mu}m$. Three pairs of chromosomes were relatively long in total length and the others were short. The karyotype was bimodal in chromosome length and arm ratios. The chromosome complement comprise eight pairs of metacentric (chromosome 2, 3, 6, 7, 8, 9, 10, and 11), two pairs of submetacentric (chromosome 4 and 5), and one pair of subtelocentric (chromosome 1).

Familial Chromosome No. 9 Pericentic Inversion Producing Scimitar Syndrome

  • Kim, Jong-Wan;Kim, Young-Yoo;Shin, Jong-Chul;Lee, Won-Bae
    • Journal of Genetic Medicine
    • /
    • v.3 no.1
    • /
    • pp.1-4
    • /
    • 1999
  • Scimitar syndrome is a rare congenital anomaly that is characterized by hypoplasia of the right lung and the right pulmonary artery with anomalous pulmonary venous drainage to the inferior vena cava. The scimitar vein is usually visible on chest radiographs, but may be obscured by the heart. It is essential for surgical correction to establish the point of drainage of the anomalous vein and associated anomalies. There are recent reports of familial total anomalous pulmonary venous return suggesting heritable forms of this anomaly. Although genetic factors are believed to have important roles in congenital heart disease, few genes involved in heart development have been located. We report a case of familial chromosome 9 inversion with Scimitar syndrome in an offspring who presented with dextrocardia. Evaluation with magnetic resonance cineangiograph imaging demonstrated an anomalous pulmonary vein draining into the inferior vena cava above the diaphragm and hypoplasia of the right lung and the right pulmonary artery. Chromsome analysis showed pericentric inversion of chromosome 9, inv 9 (p13, q21), in the patient and his mother as well. A brief review of the related literature is also included.

  • PDF

PSYCHIATRIC CHARACTERISTICS OF CHILD PATIENTS WITH INVERSION OF CHROMOSOME 9 - A PRELIMINARY STUDY - (9번 염색체 전위를 지닌 환아들의 정신과적 특성 - 예비적 연구 -)

  • Lee, Jun-Young;Hwang, Jun-Won;Hong, Kang-E;Kim, Jae-Won
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
    • /
    • v.12 no.1
    • /
    • pp.71-78
    • /
    • 2001
  • Objectives:Few studies have examined the psychiatric properties or child developmental problems associated with inversion of chromosome 9. The purpose of this study is to examine the psychiatric properties of child patients who have inversion of chromosome 9, focused on behavioral problems and child developmental problems like motor or language developmental delay, intellectual impairment, and growth retardation. Methods:1) The authors examined the cases referred for cytogenetic examination from 1984 to 2000 at Seoul National University Hospital in Korea. The cases with the examination result of inversion of chromosome 9 were collected and informations about the departments which referred and the main reasons for referral were also checked. 2) 12 child subjects with inversion of chromosome 9 and their parents underwent psychiatric interview and parent questionnaire(child and adolescent past history questionnare, CBCL). 45 normal students whose sex and age were matched to patients were selected as a control group. Results:1) There were 165 cases of inversion of chromosome 9. The major departments which referred were Obstetrics and Gynecology(47.3%), Pediatrics(23.6%) and Child and Adolescent Psychiatry(17.0%). The major reasons for referral from the Pediatrics and the Child and Adolescent Psychiatry department (67 cases total) were intellectual impairment(35.8%), language or motor developmental delay(31.3%), suspected Fragile X syndrome(23.9%), and growth retardation(20.9%). 2) Compared to normal control group, the rate to be included in the clinical range with regard to the social problems profile was higher in patient group according to the CBCL results. The patient group had language and motor developmental delay. Conclusion:There is a possibility of inversion of chromosome 9 to be associated with child developmental problems or behavioral problems. This study is the first approach to evaluate the developmental aspects associated with inversion of chromosome 9.

  • PDF