OBJECTIVE: A cytogenetic survey of the mentally retarded children in Seoul City Welfare Center for the Mentally Retarded and St Peter school has been undertaken. METHODS: The chromosome analysis was carried out in 92 males and in 66 females as a total of 158 cases. RESULTS: Abnormal karyotypes were observed in 22.2% of the total cases (35/158). Autosome and sex chromosome anomaly were observed in 20.3%(32/158) and 1.9%(3/158) respectively. Of 35 cases of anomaly, 91.4%(32/35) was autosome anomaly and 8.6%(3/35), sex chromosome anomaly. CONCLUSION: Down syndrome karyotype was the most frequent anomaly among autosome anomalies which was 62.5%(20/32) and other autosome anomalies were observed in 37.5%(12/32).
Abnormal Karyotype ; Child* ; Cytogenetics* ; Down Syndrome ; Female ; Humans ; Karyotype ; Male ; Mentally Disabled Persons* ; Seoul ; Sex Chromosomes

OBJECTIVE: To evaluate the efficiency of the measurement of fetal nuchal translucency (FNT) and ductus venosus Doppler examination (DV Doppler) as a screening tool for chromosomal abnormalities. METHODS: FNT measurement and DV Doppler wereperformed in 950 pregnancies between 11(+0)~13(+6) weeks' gestation. Chromosomal analysis was done when FNT was more than 3 mm and DV Doppler showed absent flow or reversed flow. The numbers of cases with increased FNT and abnormal DV Doppler were counted in the groups of abnormal and normal karyotype. RESULTS: Data were available in 912 pregnancies. 11 pregnancies showed abnormal karyotype (1.2%). In the 11 cases with abnormal karyotype,increased FNT was found in 8 cases with 72.7% sensitivity and abnormal DV Doppler was found in 5 cases with 45.4% sensitivity. In the 901 cases withnormal karyotype, increased FNT was found in 33 cases with 96.3% specificity and abnormal DV Doppler was found in 12 cases with 98.7% specificity. Positive predictive value was 19.5% in cases of increased FNT, 29.4% in cases of abnormal DV Doppler, and 44.4% in cases of increased FNT and abnormal DV Doppler both. CONCLUSION: There is no improvement in general screening for chromosomal abnormalities when FNT measurement and DV Doppler were performed together. But better specificity and positive predictive value for chromosomal abnormalities were found.
Abnormal Karyotype ; Chromosome Aberrations ; Karyotype ; Mass Screening ; Nuchal Translucency Measurement ; Pregnancy ; Sensitivity and Specificity

BACKGROUND: The expression of mutant p53 seems to induce malignant transformation by blocking the progression of cell differentiation or apoptotic process. The purpose of this study was to investigate the role of apoptosis and, possibly, a mutant p53 in ineffective hematopoiesis in myelodysplastic syndrome(MDS). The role of the mutant p53 in the leukemic transformation was also studied. METHODS: The bone marrow sections were prepared from 41 patients with MDS, 20 patients with acute myelogenous leukemia(AML) and 10 normal controls. The degree of apoptosis and the overexpression of p53 were evaluated using in situ end-labelling (ISEL) and immunohistochemical staining, respectively. RESULTS: Apoptosis was significantly increased in MDS(P<0.01 vs controls), while AML showed decreased apoptosis (P<0.01 vs controls). Overexpression of p53 protein was observed in 7 (17.1%) of 41 MDS and 3 (15.0%) of 20 AML patients, while it was not increased in normal controls. There were no p53 overexpression in all patients with normal karyotype. However, p53 overexpression was found in 5 out of 10 patients with abnormal karyotype. Three of 5 patients with p53 overexpression showed weak positive staining, and 2 with strong positive staining had complete or partial loss of 17p. CONCLUSION: These findings suggest that apoptosis has a role in ineffective hematopoiesis in MDS. The apoptosis is remarkably decreased in patients with AML. Mutation of p53 may contribute to transformation. Further systemic studies using more cases would be needed to obtain objective assessment data that immunohistochemical examination for p53 overexpression is considered to be useful in predicting the evolution to overt leukemia from MDS in the future.
Abnormal Karyotype ; Apoptosis* ; Bone Marrow ; Cell Differentiation ; Hematopoiesis ; Humans ; Karyotype ; Leukemia ; Leukemia, Myeloid, Acute* ; Myelodysplastic Syndromes*

OBJECTIVES: Chromosomal anomalies are common disease entity among genetic diseases. But there are scanty reports about the status of chromosomal abnormalities in Korean. In addition, the comprehensive multi-center study of chromosomal abnormalities in Korean has never been performed. METHODS: We have collected 1,793 cases (394 abortuses; 198 chorionic villi; 1,060 amniotic fluid cells; 141 fetal blood), which showed abnormal karyotype results from twenty three cytogenetic centers in Korea from the year of 1977 to 1999. RESULTS: In abortuses, numerical chromosomal abnormalities was 85%, and structural abnormalities was 13% and the most frequent anomaly was trisomy 16. In chorionic villi, numerical anomaly was 60.0% and structural anomaly was 31.3% and the most frequent karyotype was Down syndrome. In amniotic fluid cells, structural anomaly exceeded the number of numerical anomaly and the most frequent anomaly was Down syndrome. In fetal blood, numerical anomaly was 63.8% and the most frequent karyotype was trisomy 18 (23.4%) CONCLUSIONS: This may be the first comprehensive and multi-center study in Korea. The proportion of the abnormal karyotypes in each specimens was different from each other. Based on this study, the more comprehensive study should be performed to all the Korean population.
Abnormal Karyotype ; Amniotic Fluid ; Chorion* ; Chorionic Villi* ; Chromosome Aberrations ; Cytogenetics ; Down Syndrome ; Female ; Fetal Blood* ; Karyotype ; Korea ; Trisomy

We report on 2 siblings with a partial trisomy of 7q (7q22-->qter) and concomitant partial monosomy of 8p (8p23.3-->pter), which were shown by FISH using probes located at the telomere region of each chromosome. All the balanced translocation carriers (father and a sister) in this family had a normal phenotype. The 2 siblings with the same abnormal karyotype had similar multiple congenital anomalies and dysmorphic features. During the follow-up, the first male patient died in the neonatal period, but the female sibling is still alive at 2 years and 6 months of age.
Abnormal Karyotype ; Chromosome Deletion ; Female ; Follow-Up Studies ; Humans ; Male ; Phenotype ; Siblings ; Telomere ; Trisomy

OBJECTIVETo explore the prognostic significance of monosomal karyotype (MK) in patients with acute myeloid leukemia (AML).

METHODSThe clinical data of 498 AML patients were analyzed retrospectively.

RESULTSOf the 498 patients, 233 (46.8%) cases had an abnormal karyotype. 42 patients fulfilled the criteria for MK, which were 8.4% of all cases and 18.0% of patients with abnormal karyotype, respectively. The most frequent autosomal monosomies were -7 and -17. 70 patients had complex karyotype (CK), in all patients and patients with abnormal karyotype accounted for 14.1% and 30.0%, respectively. Patients with MK were associated with significantly older (median age 62.5 vs 52 years, P=0.003), and lower HGB concentrations (62.5 vs 77 g/L, P=0.009) and lower WBC counts (7.0×10⁹/L vs 11.7×10⁹/L, P=0.008). Among MK cases, the most frequent chromosome abnormalities were complex karyotype, -7, -5, 7q-, and 5q-. In univariate analysis, MK patients had worse survival than those without MK (7.3 months vs 26.3 months, P<0.001). CK patients also had poorer outcomes than patients without CK (14.8 months vs 26.3 months, P<0.001). In CK patients, survival was worse in MK patients than patients without MK (7.4 months vs 19.2 months, P=0.007). By COX analysis, MK was an independent prognostic factor, beyond NCCN criteria and CK [HR=2.610 (1.632-4.175), P<0.001].

CONCLUSIONMK was an independent adverse prognostic factor in AML patients.

Abnormal Karyotype ; Humans ; Karyotyping ; Leukemia, Myeloid, Acute ; Monosomy ; Prognosis ; Retrospective Studies

PURPOSE: To evaluate the risk of chromosomal abnormality and outcome of fetal omphalocele according to the omphalocele contents combined with associated anomalies. MATERIALS AND METHODS: We retrospectively reviewed the sonograms and case records of 39 fetuses with an omphalocele prenatally detected by ultrasound between 1996 and 2004. We categorized them into two groups according to the omphalocele contents, and the two groups were further subdivided according to the presence or absence of associated anomalies on the prenatal ultrasound. We compared the risk of chromosomal abnormality and fetal outcome according to the omphalocele contents combined with associated anomalies. RESULTS: We categorized the 39 fetuses with an omphalocele into 20 cases with a liver- and bowelcontaining (group I) omphalocele and 19 cases with a bowel-only (group II) omphalocele. Seven of 20 (35%) fetuses with group I omphalocele and 17 of 19 (89%) with group II omphalocele had associated anomalies. Fetal karyotyping was performed in 31 of the 39 fetuses: in group II omphalocele, 13 of the 14 tested fetuses (93%) had chromosomal abnormalities, while in group I omphalocele, one of the 17 tested fetuses (6%) had chromosomal abnormalities. All 13 group II omphalocele with associated anomaly showed abnormal karyotype. Fourteen of 39 (36%) fetuses survived, including 13 fetuses with group I omphalocele (13/20, 65%) and one with group II omphalocele (1/19, 5%). Eleven of 13 (85%) fetuses with isolated group I omphalocele showed good outcome, while no group II omphalocele with associated anomaly survived. CONCLUSION: The bowel-only omphalocele with associated anomalies suggests a very high risk of chromosomal abnormality and a poor outcome. The isolated liver- and bowel-containing omphalocele has a good outcome with a low risk of chromosomal abnormality. Sonographic evaluation of the omphalocele contents and associated anomalies is essential to predict the prognosis of the fetal omphalocele.
Abnormal Karyotype ; Chromosome Aberrations ; Fetus ; Hernia, Umbilical* ; Karyotyping ; Prognosis ; Retrospective Studies ; Ultrasonography ; Umbilical Cord

OBJECTIVETo investigate the clinical and laboratorial features of primary myelofibrosis (PMF) patients treated in our hospital, to analyze the risk factors influancing survival, and to compare several prognostic scoring systems.

METHODSparameters about clinical and laboratorial features were taken from medical documents at diagnosis, univariate analysis was conducted by Kaplan-Meier method, the survival data were compared with Log-rank test, and a COX model was used for multivariate analyses.

RESULTSIn our center the anemia and JAK2V617F mutation were more common, while the abnormal karyotype was less common, the constitutional symptoms, splenomegaly, Hb level < 100 g/L and LDH are adverse factors for survival in univariate analysis. Constitutional symptoms and Plt count < 100 × 10(9)/L are adverse factors of survival according to multivariate analysis.

CONCLUSIONThe anemia is more frequent in Chinese patients. Constitutional symptoms and Plt count < 100 × 10(9)/L are independent risk factors for survival. LILLI, modified IPSS, modified DIPSS are suitable to our data.

Abnormal Karyotype ; Asian Continental Ancestry Group ; Humans ; Janus Kinase 2 ; Mutation ; Primary Myelofibrosis ; Prognosis ; Risk Factors

OBJECTIVETo report the clinical and laboratory characterization of a case of multiple myeloma with low hypodiploid complex karyotyptic abnormalities.

METHODSCytogenetic examination of bone marrow performed by 24 h culture method. R-banding technique was used to analyze the karyotype. Interphase fluorescence in situ hybridization (FISH) was performed using chromosome probes such as 13q14, p53, Rb1, 1q21 and IgH/CCND1. The DNA content was detected by flow cytometry.

RESULTSChromosome analysis revealed complex chromosomal rearrangement. Five cells had a low hypodiploid karyotype with 35 chromosomes. Three cells had the duplication of the low hypodiploid karyotype. Four cells had a normal karyotype. Monosomy 1, 13, 14, 17 and a mark chromosome 1 derived from chromosome 11 resulting in the amplication of CCND1 gene were confirmed by interphase FISH. Flow cytometric analysis displayed a low hypodiploid peak with the DNA index of 0.8426.

CONCLUSIONThese results indicated that the low hypodiploidy is a rare abnormality in multiple myeloma. Interphase FISH is a reliable method for detecting molecular abnormalities in multiple myeloma.

Abnormal Karyotype ; Adult ; Cytogenetics ; methods ; Female ; Gene Rearrangement ; genetics ; Humans ; Multiple Myeloma ; diagnosis ; genetics

Monosomic karyotype (MK) has recently been associated with poor prognosis of myelodysplastic syndromes (MDS). The objective of the current study was to investigate the prevalence and spectrum of autosomal monosomies in an unselected cohort of patients with known or suspected MDS by using retrospective analysis. The results showed that bone marrow cytogenetic studies (1532 cases) were performed between 2004 and 2012, and an abnormal karyotype was found in 538 cases (35.1%). In the 538 cases, 202 (37.5%) cases had autosomal monosomies including sole (n = 47, 23.3%), part of two (n = 33, 21.3%) or more (n = 122, 78.7%) anomalies. Almost all 22 autosomes were involved, but monosomy 7 was by far the most frequent, constituting 66.1% of all isolated monosomies and the highest fraction of those with two or more abnormalities. Other recurrent sole monosomies included chromosomes 20 (15.0%) and 13 (8.5%). Monosomy 13 (12.5%), 18 (8.3%), 20 (6.3%), 17 (7.3%), 21 (5.2%), 5 (5.2%) and 12 (5.2%) were also recurrent in the setting of 3 abnormalities. Bone marrow histology and clinical information were reviewed in all cases with isolated monosomy; associated clinical phenotypes were found in RCMD (n = 20, 13 were -7), RAEB (n = 12, 11 were -7), RA (n = 9, 3 were -7) and chronic myelomonocytic leukemia (CMML, n = 6, 4 were -7) cases. Sole monosomy 20 (n = 7, RA 3 case and RCMD 4 cases) was not detected in RAEB or CMML cases. It is concluded that the presence of at least 1 autosomal monosomy was documented in approximately 37.5% of all abnormal cases, which has potential impact on a more than trivial fraction of patients with MDS. The preponderance of monosomy 7 implicates a pathogenetic role for haploinsufficiency of genes associated with chromosome 7. The rarity of sole monosomy involving other chromosomes other than 7, 20, and 13 suggests that haploinsufficiency involving entire chromosomes is detrimental to cell survival, unless their effect is overcome by the presence of other genetic changes that are often associated with additional chromosomal abnormalities. The observation is consistent with the usually favorable prognostic profile associated with sole monosomy 20.
Abnormal Karyotype ; Chromosome Aberrations ; Chromosome Deletion ; Humans ; Karyotyping ; Monosomy ; Myelodysplastic Syndromes ; genetics ; Prognosis ; Retrospective Studies