• Clinical and Experimental Reproductive Medicine
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• v.26 no.1
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• pp.43-54
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• 1999

Klinefelter's syndrome is a very important disease in gynecologic endocrinologic fields, because the patients with this karyotype complain of infertility, azospermia and ambiguous genitalia. Y chromosome is an important chromosome which determine genetic sex and the structure of gonad and genitalia. In this study, to elucidate the cytogenetic characteristics and clinical features of Klinefelter's syndrome and Y chromosomal abnormalities in Korea, we studied 303 cases of Klinefelter's syndrome and 11 cases of Y chromosomal abnormalities which were diagnosed by chromosomal analysis at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University for 12 years from January 1984 to December 1996. The results of this study showed as follows: 1. In a total of 9275 cases, there were 303 cases (3.3%) of Klinefelter's syndromes, 11 cases (0.1%) of Y chromosomal abnormalities. 2. In 102 cases of patients showed typical clinical features of Klinefelter's syndrome, 101 cases (99%) of them were diagnosed to Klinefelter's syndrome in karyotyping. 3. In 303 cases of Klinefelter's syndrome, there were 277 cases (91.4%) of 47,XXY complement, 16 cases (5.3%) of mosaicism, 2 cases (0.7%) of 48,XXXY, 5 cases (1.7%) of 48,XXYY and 3 cases (1.0%) of 49,XXXXY. 4. In 303 cases of Klinefelter's syndrome, 284 cases (93.7%) of them were diagnosed after puberty and only 19 cases (6.3%) of them were diagnosed before puberty. 5. In 303 cases of Klinefelter's syndrome, there were 146 cases (48.2%) of patients with infertility-associated chief complaints, 101 cases (33.3%) of patients with typical clinical features of Klinefelter's syndrome, 22 cases (7.3%) of patients with ambiguous genitalia. 6. In patients with Klinefelter's syndrome, 48,XXYY and 49,XXXXY had serious symptoms such as mental retardation, developmental delay, Down syndrome-like features, congenital anomalies, but 48,XXYY and other mosaicisms had infertility-associated symptoms or ambiguous genitalia. 7. The 8 cases of polysomy Y (XYY complement) showed several serious symptoms such as Down syndrome-like features, mental retardation, fragile X syndrome-like feature, congenital anomalies, ambiguous genitalia which could be detected before puberty.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.37-44
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• 2010

Purpose : Kabuki syndrome is a multiple congenital malformation syndrome with mental retardation. It was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play. To date, six Korean cases of Kabuki syndrome have ever been reported. Here, we present the phenotypic and genetic characteristics of six patients with Kabuki syndrome. Materials and Methods : Between 2003 and 2009, six Korean girls have been diagnosed and followed up as Kabuki syndrome at Center for Genetic Diseases of Ajou University Hospital. Their clinical and laboratory data were collected and analyzed by the retrospective review of medical records. Results : All six patients showed the characteristic facial dysmorphism and developmental delay. Persistent fingertip pads were also found in all patients. Most patients showed postnatal growth retardation (83.3%) and hypotonia (83.3%). Opthalmologic problems were common, particularly for strabismus (83.3%). Congenital heart defects were present in three patients (50%). Skeletal abnormalities including 5th finger shortening (83.3%), clinodactyly (50%), joint hypermobility (50%) and hip dislocation (16.7%) were also observed. There was no patient who had positive family history for Kabuki syndrome. Cytogenetic and molecular cytogenetic analyses including karyotyping and array CGH could not reveal any underlying genetic cause of Kabuki syndrome. Conclusion : Korean patients with Kabuki syndrome showed a broad spectrum of clinical features affecting multiple organ systems. Although clinical manifestations of Kabuki syndrome have been well established, our results failed to detect recurrent chromosome aberrations which could cause Kabuki syndrome. Its natural history and genetic background remains to be further studied for providing appropriate management and genetic counseling.

• Journal of Aquaculture
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• v.21 no.4
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• pp.259-264
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• 2008

Cytogenetic characteristics of three Hemibarbus species (H. labeo, H. longirostris and H. mylodon) were analyzed based on erythrocyte measurement, flow cytometric estimation of cellular DNA content, and karyological analysis. Average nuclear volumes for H. labeo, H. longirostris and H. mylodon were 22.5, 21.7 and $26.0\;{\mu}m^3$, respectively. The estimated genome sizes of those three species were not significantly different from one another, being recorded as 2.51, 2.33 and 2.35 pg/cell for H. labeo, H. longirostris and H. mylodon, respectively. Modal chromosome numbers of the three species were the same as 2n = 50. However, their karyotypes and fundamental numbers (FN) were different among species; 16M+16SM+18T/A (FN = 82) for H. labeo, 18M+16SM+16T/A (FN = 84) for H. longirostris and 18M+24SM+8T/A (FN = 92) for H. mylodon.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.34 no.1
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• pp.17-20
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• 2001

Cytogenetic characteristics of three species in Centropomidae (Coreoperca herzi, C. kawamebari and Siniperca schezeri) were evaluated, based on karyologcial analysis, erythrocytic measurement and genome size estimation using flow cytometry. Modal chromosome number of three species was same as 2n=48. Karyotypes were 4SM+44A$\cdot$T (NF=52) for Coreoperca herzi, 6SM+42 A$\cdot$T (NF=52) for C. kawamebari and 4SM+44A$\cdot$T (NF=52) for Siniperca schezeri. Heteromorphic sex chromosome was not found in both sexes of any species examined, Cellular and nuclear volumes of Siniperca schezeri were smaller than those of other two species, Average amounts of cellular DNA contents estimated by flow cytometry were well coincided with erythrocytic sizes. The estimated genome sizes were 1.83, 1.85 and 1.44 pg/cell for C. herzi, C. kawamebari and S. schezeri, respectively.

• Journal of Genetic Medicine
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• v.13 no.2
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• pp.78-88
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• 2016

Purpose: To identify the clinical characteristics of SRY-negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature. Materials and Methods:SRY-negative cases of 46,XX testicular disorders of sex development referred for cytogenetic analysis from 1983 to 2013 were examined using clinical findings, seminal analyses, basal hormone profiles, conventional cytogenetic analysis and polymerase chain reaction. Results: Chromosome analysis of cultured peripheral blood cells of 8,386 individuals found 19 cases (0.23%) with 46,XX testicular disorders of sex development. The SRY gene was confirmed to be absent in three of these 19 cases (15.8%). Conclusion: We report three rare cases of SRY-negative 46,XX testicular disorders of sex development. Genes on autosomes and the X chromosome that may have a role in sex determination were deduced through a literature review. These genes, through differences in gene dosage variation, may have a role in sex reversal in the absence of SRY.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.35 no.6
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• pp.589-594
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• 2002

Natural clonal stock of triploid crucian carp, Carassius aurahs was identified and its cytogenetic, molecular genetic and morphological traits were studied. Cytogenetic analysis of the clonal crucian carp revealed that they were natural triploidy, evidenced by 1.5-fold increases of cell size, DNA content, and chromosome number. Multi-locus DNA fingerprinting using $(GATA)_4$ probe showed that they had an identical fingerprint profile, indicating the clonal propagation of the population. External morphology and morphometric characteristics of triploid individuals were much uniform compared to those of diploids. Natural triploid crucian carp was proven to be all-female in this study.

• BLOOD RESEARCH
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• v.53 no.4
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• pp.276-280
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• 2018

Background Chronic lymphocytic leukemia (CLL) exhibits profound heterogeneity in its clinical course. Its clinicohematological and cytogenetic features play a significant role in determining the clinical course and in predicting the treatment response and prognosis. In this context, 17p deletion is known to predict a poor prognosis, as these cases are refractory to conventional therapy. This study aimed to evaluate the clinicohematological characteristics, outcomes, and prognostic factors among CLL patients with and without del 17p in Pakistan. Methods This prospective observational study was conducted at the Department of Haematology, Armed Forces Institute of Pathology (Rawalpindi, Pakistan) between January 2013 and December 2017. Patients were diagnosed based on the International Workshop on Chronic Lymphocytic Leukaemia IWCLL criteria, their clinicohematological parameters were recorded, and cytogenetic analyses were performed. The time from diagnosis to treatment and the 2-year overall survival rate were also evaluated. Results We evaluated 130 CLL cases, including 24 patients (18.5%) with del 17p, who included 18 men (75%) and 6 women (25%). The median age was 68 years. Binet stage C was detected at the presentation in 16 patients (67%). Treatment was administered to 14 patients (70%) at a median interval of 11 months (range, 0-28 mo) after diagnosis. The overall response rate was 64.3%, the median event-free survival was 9 months (range, 1-23 mo), and the 2-year overall survival rate was 65%. Conclusion Del 17p is relatively common in Pakistan, and patients harboring this deletion had poor treatment response and survival outcomes.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.5
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• pp.2285-2289
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• 2012

Multidrug resistance (MDR) is a main cause of failure in the chemotherapeutic treatment of malignant disorders. One of the well-known genes responsible for drug resistance encodes the multidrug resistance-associated protein (MRP1). The association of MRP1 with clinical drug resistance has not systematically been investigated in Iranian pediatric leukemia patients. We therefore applied real-time RT-PCR technology to study the association between the MRP1 gene and MDR phenotype in Iranian pediatric leukemia patients. We found that overexpression of MRP1 occurred in most Iranian pediatric leukemia patients at relapse. However, no relation between MRP1 mRNA levels and other clinical characteristics, including cytogenetic subgroups and FAB subtypes, was found.

• Korean Journal of Veterinary Research
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• v.44 no.2
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• pp.159-162
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• 2004

We investigated the cytogenetic characteristics of male black-striped field mouse (Apodemus agrarium) in Korea. Chromosome slides were obtained from blood cell cultures which were synchronized with thymidine blocking or not. In the chromosome slide which synchronization with thymidine blocking was employed on, the GTG(G bands by trypsin using Giemsa)-bands of high resolution were observed. The male black-striped field mouse has 48 chromosomes composed 46 autosomes and XY sex chromosomes. The centromeric regions of autosomes were positive to GTG-banding. According to this investigation, thymidine blocking in cell culture process was useful to get lengthened chromosomes. It may be necessary to employ RBG-banding technique to investigate complementary band patterns between R- and G-banding in black-striped field mouse.

• Biomedical Science Letters
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• v.15 no.4
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• pp.363-368
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• 2009

One of the frequent occurrences in rearrangements is chromosome inversion. Pericentric inversion is considered to be the variant of normal karyotype. We investigated the karyotypes of 1195 cases being referred to prenatal diagnosis using standard GTG banding for karyotype preparation. The chromosomal analysis revealed a total of 15 (1.26%) inversions. The characteristics of inversion type [(inv(4), inv(8), inv(9), inv(11)) were investigated on the basis of chromosomal analyses of fetuses and their parents. The results from chromosomal examination of the parents, whose fetuses were diagnosed as inversion, show that either parent might be the carrier. Inversion in human chromosome is commonly seen in normal humans and the frequency estimated to be 1 to 2% in general population and the exact amount of this phenomenon is still unclear. These results indicate that inv(8), inv(9), and inv(11) are phenotypically normal. However these may often cause clinical problems in offspring of the carrier, such as fetal wastage repeated spontaneous abortions and infertility with unknown mechanisms related to sex. We describe an inversion of human chromosome and its clinical correlation with human genetic disease.