• Title/Summary/Keyword: Karyotype analysis

Search Result 170, Processing Time 0.028 seconds

Clinical application of chromosomal microarray for pathogenic genomic imbalance in fetuses with increased nuchal translucency but normal karyotype

  • Lee, Dongsook;Go, Sanghee;Na, Sohyun;Park, Surim;Ma, Jinyoung;Hwang, Doyeong
    • Journal of Genetic Medicine
    • /
    • v.17 no.1
    • /
    • pp.21-26
    • /
    • 2020
  • Purpose: To evaluate the additive value of prenatal chromosomal microarray analysis (CMA) in assessing increased nuchal translucency (NT) (≥3.5 mm) with normal karyotype and the possibility of detecting clinically significant genomic imbalance, based on specific indications. Materials and Methods: Invasive samples from 494 pregnancies with NT ≥3.5 mm, obtained from the Research Center of Fertility & Genetics of Hamchoon Women's Clinic between January 2019 and February 2020, were included in this study and CMA was performed in addition to a standard karyotype. Results: In total, 494 cases were subjected to both karyotype and CMA analyses. Among these, 199 cases of aneuploidy were excluded. CMA was performed on the remaining 295 cases (59.7%), which showed normal (231/295, 78.3%) or non-significant copy number variation (CNV), such as benign CNV or variants of uncertain clinical significance likely benign (53/295, 18.0%). Clinically significant CNVs were detected in 11 cases (11/295, 3.7%). Conclusion: Prenatal CMA resulted in a 3% to 4% higher CNV diagnosis rate in fetuses exhibiting increased NT (≥3.5 mm) without other ultrasound detected anomalies and normal karyotype. Therefore, we suggest using high resolution, non- targeting CMA to provide valuable additional information for prenatal diagnosis. Further, we recommend that a genetics specialist should be consulted to interpret the information appropriately and provide counseling and follow-up services after prenatal CMA.

Karyotype Analysis of Tobacco Moth, Ephestia elutezza H. (Lepidoptera : Pyralidae) and Cigarette Beetle, Lasioderma serricorne F. (Coleoptera : Anobiidae) (다색알락명나방(Ephestia elutella H.)과 궐련벌레(Lasioderma serricorne F.)의 핵형 분석)

  • Chae, Soon-Yong;Kim, Sang-Seock;Chang, Young-Dock
    • Journal of the Korean Society of Tobacco Science
    • /
    • v.18 no.1
    • /
    • pp.30-38
    • /
    • 1996
  • Meiotic metaphase chromosomes of the testis of two storage insects, tobacco moth (Ephestia elutella H.) and cigarette beetle (Lasioderma serricorne F.) were examined to study their karyotypes. The number of haploid chromosomes of the tobacco moth was 31 and the karyotype was characterized by 29 metacentric and 2 submetacentric chromosomes. The metaphase chromosome length of tobacco moth ranged ca. 1.44-2.11${\mu}{\textrm}{m}$ and the average length was 1, 78${\mu}{\textrm}{m}$. The number of haploid chromosomes of the cigarette beetle at metaphase was 10 and the karyotype was characterized by 8 metacentric and 2 submetacentric chromosomes. The range of metaphase chromosome length of the cigarette beetle was ca. 1.79- 2.39${\mu}{\textrm}{m}$ and the average length 2.09${\mu}{\textrm}{m}$.

  • PDF

Cytogenetic Studies of Scilla scilloides Complex from Korea III. Karyotype of Cytotype BB and B-Chromosome Composition (한국 무릇(Scilla scilloides Complex)의 세포유전학적 연구 III. BB 게놈의 핵형과 B염색체 조성)

  • 방재욱
    • Journal of Plant Biology
    • /
    • v.36 no.3
    • /
    • pp.281-284
    • /
    • 1993
  • A karyotype of cytotype BB plant in Scilla scilloides Complex was established and the frequency of B-chromosomes were investigated. Chromosome complements of BB genome were composed of five pairs of subtelocentric and four pairs of metacentric chromosomes. Chromosome 1 has satellite with nucleolar organizer. Polymorphism was found in chromosome 2. The karyotype of cytotype BB will be available for analysis of genome composition in various cytotypes of S. scilloides Complex. The frequency of B-chromosome was 78.6%. Numbers of B-chromosome ranged from 1 to 4 and plants with 2B-chromosomes were predominant (57.2%). Two type of B-chromosomes, F and F', were found; F is a large iso-chromosome and F' a small one.

  • PDF

The Implementation of Hierarchical Artificial Neural Network Classifier for Chromosome Karyotype Classification (염색체 핵형 분류를 위한 계층적 인공 신경회로망 분류기 구현)

  • Jeon, Gye-Rok;Choe, Uk-Hwan;Nam, Gi-Gon;Eom, Sang-Hui;Lee, Gwon-Sun;Jang, Yong-Hun
    • Journal of Biomedical Engineering Research
    • /
    • v.18 no.3
    • /
    • pp.233-241
    • /
    • 1997
  • The research on chromosomes is very significant in cytogenetics since genes of the chromosomes control revelation of the inheritance plasma. The human chromosome analysis is widely used to study leukemia, malignancy, radiation hazard, and mutagen dosimetry as well as various congenital anomalies such as Down's, Klinefelter's, Edward's, and Patau's syndrome. The framing and analysis of the chromosome karyogram, which requires specific cytogenetic knowledge is most important in this field. Many researches on automated chromosome karyotype analysis methods have been carried out, some of which produced commercial systems. However, there still remains much room to improve the accuracy of chromosome classification and to reduce the processing time in real clinic environments. In this paper, we proposed a hierarchical artificial neural network(HANN) to classify the chromosome karyotype. We extracted three or four chromosome morphological feature parameters such as centromeric index, relative length ratio, relative area ratio, and chromosome length by preprocessing from ten human chromosome images. The feature parameters of five human chromosome images were used to learn HANN and the rest of them were used to classify the chromosome images. The experiment results show that the chromosome classification error is reduced much more than that of the other researchers using less feature parameters.

  • PDF

Karyotype of an Endangered Freshwater Fish, Microphysogobio koreensis (Pisces: Cyprinidae) from Korea (멸종위기어류 모래주사 Microphysogobio koreensis (Pisces: Cyprinidae)의 핵형분석)

  • Park, Jong Sung;Kim, Hyeong Su;Park, Jong Young
    • Korean Journal of Ichthyology
    • /
    • v.30 no.2
    • /
    • pp.71-74
    • /
    • 2018
  • The karyotype analysis of an endangered freshwater fish, Microphysogobio koreensis, was performed to obtain basic data for phylogenetic information. To carry out our study, 4 specimens were collected in Seomjingang River and Nakdongang River and its kidney was treated by flame-drying method. The chromosome number of this species demonstrated 50 diploid chromosomes, with two populations of M. koreensis not significantly different. The karyotype revealed 2n=26m+24sm, consisting of 26 metacentric (m) and 24 submetacentric (sm) chromosomes with the total fundamental arm number determined as FN=100. Total arm length and arm ratio of the chromosomes were $1.44{\sim}2.68{\mu}m$ and 1.27~2.27, respectively. The karyotype of M. koreensis was first reported in this study.

Chromosomal Abnormalities in Pakistani Children with Acute Lymphoblastic Leukemia

  • Shaikh, Muhammad Shariq;Ali, Syed Sarwer;Khurshid, Mohammad;Fadoo, Zehra
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.15 no.9
    • /
    • pp.3907-3909
    • /
    • 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.

Chromosomal Analysis of Meiosis and Mitosis in New Zealane White Rabbit (New Zealand White 토끼의 생식세포 및 체세포 분열에 의한 염색체 분석)

  • 신선희;김희수;최영현;이원호
    • Journal of Life Science
    • /
    • v.11 no.4
    • /
    • pp.354-361
    • /
    • 2001
  • Chromosomal characteristics of New Zealane White rabbit was studied at meiosis and mitosis. The meiotic chromosomal preparations were mad with the modified air-drying method and karyotype analysis was performed with the G-banding technique, using isolated mitotic metapase chromosomes of the New Zealand White rabbit. Chromosomes, sex vesicles and centromeres could be classified in the zygotene and the pachytene of the meiosis I. The hair-like processes projecting laterally from the axes of bivalent chromosomes at the mid-to-late pachytene were observed and made the appearance of the lampbrush chromosome structure. Chromosomes could be classified onthe basis of the numbers and locations of chiasma in the diakinesis. Twenty-one autosomal bivalents and a single unequal terminally associated X-Y bivalent were observe during the late prophase and the metaphase of the meiosis I. Most of the bivalent types observed in the New Zealand White rabbit spermatrocytes were 1CH, 1TAl, and 2TA bivalents. The mean chiasma frequency(CF) of the male New Zealand White rabbit was 30.2 and it was found that the CF value tended to decrease through diakinesis and the metaphase I. The karyotype of the New Zealand White rabbit was a male chromosome number of 44(2n=44) comprising 8 pairs of metacentric, 9 pairs of submetacentric, 4 pairs o acrocentric autosomes, metacentric X chromosome and acrocentric Y chromosome.

  • PDF

Karyotype analysis of Neodiplostomum seoulense (서울주걱흡충 염색체 핵형 분석)

  • Gab-Man PARK;Soo-Ung LEE;Hyun-Young PARK;Sun HUH
    • Parasites, Hosts and Diseases
    • /
    • v.36 no.4
    • /
    • pp.277-279
    • /
    • 1998
  • A karyotype analysis of the chromosome of Neodiplostomum seoulense, one of causative agents of human intestinal trematodiasis, was done from the gonad tissue by the squashing method. The chromosome number was n=10 and 2n=20. Chromosome length was $1.30-4.0{\;}\mu\textrm{m}$. Chromosome pairs in the complement consisted of two pairs of metacentric, five pairs of submetacentri$cs_telocentric and three pairs of telocentric chromosomes. These data were comparable with those of other intestinal trematodes.es.

  • PDF

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).

Karyotype Analysis and Physical Mapping of rDNAs in Bupleurum longeradiatum (개시호 (Bupleurum longeradiatum)의 핵형분석과 rDNAs의 Physical Mapping)

  • Koo, Dal-Hoe;Seong, Nak-Sul;Seong, Jong-Suk;Bang, Kyong-Hwan;Bang, Jae-Wook
    • Korean Journal of Medicinal Crop Science
    • /
    • v.11 no.5
    • /
    • pp.402-407
    • /
    • 2003
  • Karyotype analysis and chromosomal localization of 5S and 45S rDNAs using multi-color fluorescence in situ hybridization (McFISH) technique were carried out in Bupleurum longeradiatum. Somatic metaphase chromosome number was 2n=12. Karyotype was composed of three pairs of metacentrics (No.3, 4 and 6) and three pairs of submetacentrics (No. 1, 2 and 5). The length of somatic prometaphase chromosomes ranges from 2.55 to $5.05{\mu}m$ with total length of $18.15\;{\mu}m$. In FISH experiment, one pair of 5S rDNA signals was detected on the pericentromeric region of chromosome 4 and one pair of 45S rDNA signals was detected on the telomeric region of chromosome 2.