3 cases of transitional cell carcinoma were subjected to detailed cytogenetic analysis. All three were superficial (T1G I , T1G III, T1G I). Case 1 and case 3 (all T1G I) had diploidy modal chromosomal number but case 2 (TtGIII) had partly triploidy and tetraploidy chromosome. Case 3 showed marker chromosomes and in case 2 and 3, breakage of long arm of the second chromosome was seen.
Arm ; Carcinoma, Transitional Cell* ; Cytogenetic Analysis ; Diploidy ; Tetraploidy ; Triploidy ; Urinary Bladder*

To evaluate the significance of placental histology, a collaborative histological and cytogenetic study was performed on the products of 88 spontaneous abortions, and subsequently bcl-2 immunostaining was performed on 62 cases. The morphometric parameters included were DCIRCLE, FORMSHAPE, CPRATIO, and the expression of bcl-2 immunostainig was graded in four categories (I to IV). The results were as follows: 1) 40% (n=35) were chromosomally abnormal: trisomies predominated (57%, n=20) and was followed by triploidy (14%, n=5), double trisomy (6%, n=2), monosomy X (6%, n=2), inversion (9) (6%, n=2). 2) mean of DCIRCLE in chromosomally abnormal pregnancy was 40 micrometer larger than that in chromosomally normal pregnancy (p=0.012, one side t-test), while no difference was found in FORMSHAPE and CPRATIO between chromosomally abnormal and normal pregnancy. 3) bcl-2 expression was found in syncytiotrophoblast and cytotrophoblast. bcl-2 expression was weaker in chromosomally abnormal pregnancy with intensity I and II of 59% than chromosomally normal pregnancy with intensity I and II of 24%. 4) In comparison bcl-2 expression with DCIRCLE, in chromosomally normal abortion one (10%) in I & II and one (3%) in III & IV showed large DCIRCLE (above 360 micrometer), while 11 (85%) in I & II and 3 (33%) in III & IV in chromosomally abnormal pregnancy. It would mean that bcl-2 protein is necessary in preservation of pregnancy and placental morphology. Abnormal villous diameter and weak bcl-2 expression may be suggestive of chromosomal anomaly. Besides other histologic parameters, application of bcl-2 immunostaining and morphometric analysis probably give more sensitive and specific results in identifying chromosomally abnormal abortion.
Abortion, Spontaneous ; Cytogenetics ; Female ; Humans ; Placenta* ; Pregnancy* ; Triploidy ; Trisomy ; Trophoblasts ; Turner Syndrome

We present an unusual case in which a patient was diagnosed with the preeclampsia associated with a partial hydatidiform mole and bilateral theca-lutein cysts. The patient newly developed proteinuric hypertension at 16 weeks' gestation. Ultrasound findings showed small multiple cystic spaces in the placenta and a live singleton fetus. Triploid 69, XXX was confirmed at karyotype analysis. Intrauterine fetal death was found at 18 weeks' gestation and termination of pregnancy was performed, and a partial hydatidiform mole was confirmed at pathologic examination. Torsion of bilateral theca-lutein cysts was developed at postpartum one week. Detorsion and aspiration of the bilateral theca-lutein cysts were performed under the laparoscopy.
Female ; Fetal Death ; Fetus ; Humans ; Hydatidiform Mole ; Hypertension ; Karyotype ; Laparoscopy ; Placenta ; Postpartum Period ; Pre-Eclampsia ; Pregnancy ; Triploidy

Numerical and structural chromosomal abnormalities are common in hematological malignancies. Near-triploidy (58-80 chromosomes) is a numerical abnormality observed in 3% of adult cases of acute lymphoblastic leukemia. Near-triploidy is rare in myeloid lineage hematologic malignancies and compared to near-triploidy in lymphoid malignancies, near-triploidy in myeloid malignancies is associated with poor outcomes. Few studies on near-triploidy in myelodysplastic syndrome (MDS) have been reported, and the clinicopathologic significance of this condition is still unclear. Here, we report a novel case of MDS with near-triploidy and multiple structural chromosomal abnormalities: del(5q) combined with del(1p) and del(13q). These abnormalities were detected by cytogenetic analysis with array comparative genomic hybridization (CGH). Our results suggest that array CGH can be a useful tool for detecting chromosomal abnormalities in patients with MDS.
Aged ; Bone Marrow Cells/pathology ; *Chromosome Deletion ; Comparative Genomic Hybridization ; Humans ; Karyotyping ; Male ; Myelodysplastic Syndromes/*genetics ; Triploidy

OBJECTIVE: It has previously been suggested that embryos developing from intracytoplasmic sperm-injected (ICSI) zygotes with three pronuclei (3PN) are endowed with a mechanism for self-correction of triploidy to diploidy. 3PN are also observed in zygotes after conventional in vitro fertilization (IVF). The parental origin, however, differs between the two fertilization methods. Whereas the vast majority of 3PN IVF zygotes are of dispermic origin and thus more likely to have two centrioles, the 3PN ICSI zygotes are digynic in origin and therefore, more likely to have one centriole. In the present study, we examine whether the parental origin of 3PN embryos correlates with the karyotype. METHODS: The karyotype of each nucleus was estimated using four sequential fluorescence in situ hybridizations-each with two probes-resulting in quantitative information of 8 different chromosomes. The karyotypes were then compared and correlated to the parental origin. RESULTS: 3PN ICSI embryos displayed a significantly larger and more coordinated reduction from the assumed initial 3 sets of chromosomes than 3PN IVF embryos. CONCLUSION: The differences in the parental origin-and hence the number of centrioles-between the 3PN IVF and the 3PN ICSI zygotes are likely to be the cause of the differences in karyotypes.
Centrioles ; Diploidy ; Embryonic Structures* ; Fertilization ; Fertilization in Vitro ; Fluorescence ; Humans ; Karyotype* ; Parents* ; Ploidies ; Sperm Injections, Intracytoplasmic ; Triploidy ; Zygote*

Holoprosencephaly of unknown definite causes, has been associated with several chromosome abnormalities involving the autosomes and the sex chromosomes. The most commonly reported associations include dup(3p), del(7q), deletions of chromosome 13, trisomy 13, trisomy 18, and triploidy. In previously reported cases in Korea, none were associated with chromosome 21 anomalies. In conclusion, we reported the first case of holoprosencephaly(semilobar type) associated with pure monosomy 21. We experienced a semilobar type holoprosencephaly with monosomy 21 in a neonate who had multiple congenital anomalies, including an abnormal face, a small thorax with widely spaced hypoplastic nipples and nail hypoplasia, lung hypoplasia with severe scoliosis and cardiac abnormalities. Chromosomal analysis revealed a 45, XY, -21.
Chromosome Aberrations ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 21 ; Holoprosencephaly ; Humans ; Infant, Newborn ; Korea ; Lung ; Monosomy ; Nipples ; Scoliosis ; Sex Chromosomes ; Thorax ; Triploidy ; Trisomy

OBJECT: To analyze the frequency and the types of chromosomal abnormalities in conceptus of spontaneous abortion method: 81 cases of products of conception aborted spontaneously were collected From Nov. 1999 to May, 2004 in the cytogenetic laboratory at Kangnam St. Mary's Hospital, Catholic University Medical College. The cytogenetic results,along with clinical information including gestational age at the time of the miscarriage and maternal age, were compiled in a database. RESULTS: Cytogenetic results were obtained from 76 cases (93.8%), of which 33 cases (43.4%) showed chromosome abnormalities. Of 33 chromosomal abnormalities, 12 cases (36.4%) showed monosomy X, including one case of 46,X,+7 and the other case of 44,X, t(13q14q). Autosomal trisomy was also detected in 12 cases (36.4%). The most frequent autosomal trisomy was that of chromosome 18 (4 cases), which occurred exclusively in old maternal age (37.8+/-7.5 years old). Mosaicism was found in 2 cases. Triploidy was identified in 4 cases. Structural abnormalities were identified in 3 cases. CONCLUSION: This study showed that monosomy X and trisomy were the most common chromosomal abnormalities in spontaneous abortion, and autosomal trisomy was dependant on maternal age.
Abortion, Spontaneous* ; Chromosome Aberrations ; Chromosomes, Human, Pair 18 ; Cytogenetic Analysis* ; Cytogenetics* ; Female ; Fertilization ; Gestational Age ; Humans ; Maternal Age ; Mosaicism ; Pregnancy ; Triploidy ; Trisomy ; Turner Syndrome

In addition to age, white cell count and immunophenotype, karyotype has been reported to be one of the important prognostic factors in acute lymphocytic leukemias.Furthermore 70 percent of patients with acute B lymphocytic leukemia presented chromosomal abnormalities, which is known to have a close relationship with the prognosis. Among the abnormalities, triploid is rare and known to have the worse prognosis. Structural chromosomal abnormality of the 11q23 band is more common in childhood acute lymphocytic leukemia and has been rarely reported in adult lymphocytic leukemia. We present a case of a 29 year - old male patient with acute lymphocytic leukemia, who had triploid and chromosomal translocation including 11q23 band along with the review of related literature.
Adult* ; Cell Count ; Chromosome Aberrations ; Chromosomes, Human, Pair 11 ; Humans ; Karyotype ; Leukemia, B-Cell ; Leukemia, Lymphoid ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Prognosis ; Translocation, Genetic ; Triploidy

PURPOSE: To evaluate the NT in the first trimester associated with fetal chromosomal abnormality, fetal structural abnormality and adverse pregnancy outcome. METHODS: From Mar. 1993 to Dec. 1997, 133 cases of increased NT were reviewed retrospectively. All these fetues were taken a karyotyping and/or a high resolution ultrasonography for associated anomaly. The NT was measured by transvaginal ultrasonography(TVS) and transabdominal ultrasonography(TAS) if difficulty was encountered with TVS in the period of the 10th-14th week of gestation. The increased NT is approved when it is over 3mm. RESULTS: Of these 133 cases, 102 cases(76.7%) revealed normal outcomes and 31 cases(23.3%) revealed abnormal outcomes such as chromosomal abnormality, structural abnormality and adverse pregnancy outcome, The mean value of NT was 3.44+/-0.68mm in the normal group and 4.93+/-2.70mm in the abnormal group, respectively. The chromosomal abnormalities were found in 16 of the 31 cases: nine Down SD, two Patau syndrome, one Tuner synrome, one triploidy, one 46, XX,i(18q), one 47,iso(Xp)/46,XX one confined placental mosaicism. In 12 cases of the 31 cases, the structural anomalies were detected. Of these 12 cases, 3 cases were eventually developed to cytsic hygroma, 3 cases were cardiac anomaly, 3 cases were renal anomaly, 1 case was congenital diaphragmatic hernia, 1 case was skeletal dysplasia and 1 case was suspected syndrome. The adverse pregnancy outcome such as intrauterine growth restriction, intrauterine fetal death and preterm labor was revealed in 3 cases. In the cases of NT over 7mm, the result was 100% abnormal outcome. CONCLUSION: Increased NT in the first trimester could be a highly efficient the predictor for detection of chromosomal abnormality, structural anomaly and adverse pregnancy outcome.
Chromosome Aberrations ; Female ; Fetal Death ; Hernia, Diaphragmatic ; Humans ; Karyotyping ; Lymphangioma, Cystic ; Mosaicism ; Nuchal Translucency Measurement ; Obstetric Labor, Premature ; Pregnancy ; Pregnancy Outcome* ; Pregnancy Trimester, First ; Pregnancy* ; Retrospective Studies ; Triploidy ; Ultrasonography

BACKGROUND: Oncogenes and EGF-Receptor(EGFR) may be involved n different stages of the multistep carcinogenesis process. A specific pattern of karyotypic abnormalities in solid tumors can be detected by cytogenetic methods. OBJECTIVE: This study is intnded to observe the cytomolecular kiologic chracterization of c-myc, erb B and EGFR genes in squasnous cell carcinoma(SCC) of the skin and cervix. METHODS: We have eytogenet,ically examined the short-term culturs from SCC. The rearrangement, amplification or expressi.on of erb B, c-myc, and EGFR genes were studied by Southern blot, analysis of genomic DNA and by slot blot analysis of tota! RNA extracted from biopsies of normal skin and SCC tissues. EGFR expression was examined immunohistochemially using monoclonal antibodies and the localizat,ion of the c-myc oncogene mRNA by in situ hybridization. RESULTS: A remarkably structural aberration was del 6(q21-qter) counted 20 metaphases among 28 metaphases ana1yzed. In nunierical aberration, all chromosomes were lost or gained randomly. Amenploid including triploid and tetraploid were observed in 8 metaphases, 6 tumor cells contained marker chromosome. In Southern blot analysis, rearrangement and amglificaton of EGFR in primary squamous cell carcinoma of cervix uteri and skin respectively. In slot blot analysis, the levels of c-myc, erb B and EGFR mRNA increaaed respectively 3.5, 2.5 and 2.8 times in SCC when compared to normal tissues. In immunoperoxidase stain, EGFR was present, in SCC where keratinocytes with strong cyto-plasmic staining but no membr, line labelling, where as in normal skin the were primarily present in t,he membrane and cytoplasm of basal cells. In situ hybridization with c-myc cDNAs allowed detection of grains representative of biotin labelled cDNA-mRNA hybrids in the frozden section of SCC tissues. CONCLUSION: These results suggest that specific patterns of karyotypir abnormalites, rearrangement, or amplification of EGFR gene, and overexpression of oncogenes and EGFR gene may be associated with the carcinogenesis of SCC.
Antibodies, Monoclonal ; Biopsy ; Biotin ; Blotting, Southern ; Carcinogenesis ; Carcinoma, Squamous Cell* ; Edible Grain ; Cervix Uteri ; Cytogenetics ; Cytoplasm ; DNA ; DNA, Complementary ; Epidermal Growth Factor* ; Female ; Genes, erbB-1 ; In Situ Hybridization ; Keratinocytes ; Membranes ; Metaphase ; Oncogenes ; RNA ; RNA, Messenger ; Skin ; Tetraploidy ; Triploidy