PURPOSE: Overgrowth syndromes are conditions that involve generalized or localized areas of excess growth. In this study, the clinical, molecular, and genetic characteristics of Korean patients with overgrowth syndrome were analyzed. MATERIALS AND METHODS: We recruited 13 patients who presented with overgrowth syndrome. All patients fulfilled inclusion criteria of overgrowth syndrome. Analysis of the clinical and molecular investigations of patients with overgrowth syndrome was performed retrospectively. RESULTS: Among the 13 patients with overgrowth syndrome, 9 patients (69.2%) were found to have molecular and genetic causes. Among the seven patients with Sotos syndrome (SS), two had a 5q35microdeletion that was confirmed by fluorescent in situ hybridization. In two patients with SS, intragenic mutations including a novel mutation, c.5993T>A (p.M1998L), were found by Sanger sequencing. One patient had one copy deletion of NDS1 gene which was confirmed by multiplex ligation-dependent probe amplification. Among five patients with Beckwith-Wiedemann syndrome, three had aberrant imprinting control regions; 2 hypermethylation of the differentially methylated region of H19, 1 hypomethylation of the differentially methylated region of Kv. In one patient displaying overlapping clinical features of SS, a de novo heterozygous deletion in the chromosomal region 7q22.1-22.3 was found by single nucleotide polymorphism-based microarray. CONCLUSION: Considering high detection rate of molecular and genetic abnormalities in this study, rigorous investigations of overgrowth syndrome may be an important tool for the early diagnosis and genetic counseling. A detailed molecular analysis of the rearranged regions may supply the clues for the identification of genes involved in growth regulation.
Beckwith-Wiedemann Syndrome ; Early Diagnosis ; Genetic Counseling ; Humans ; In Situ Hybridization, Fluorescence ; Multiplex Polymerase Chain Reaction ; Retrospective Studies ; Sotos Syndrome

The Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct syndromes with a shared cytogenetic deletion of chromosome 15q11q13 in most patients. Currently the diagnosis of PWS/AS is clinically suspected and can be confirmed by genetic laboratory tests. However, their diagnosis remains difficult in neonates and early infants because many features of the syndromes change with age and the typical features do not present in this early period. Recently, we experienced 5 cases of PWS/AS, confirmed by fluorescence in situ hybridization (FISH) study in neonates and infants admitted to neonatal intensive care unit due to hypotonia and feeding problems. We believe that these syndromes are far more common than previously thought, and report thes 5 cases to emphasize the importance of early diagnosis in order to provide appropriate counselling for the parents. We recommend molecular genetic studies of PWS/ AS in floppy infants who have feeding problems during the neonate stage and infancy.
Angelman Syndrome ; Cytogenetics ; Diagnosis ; Early Diagnosis ; Fluorescence ; Humans ; In Situ Hybridization ; Infant ; Infant, Newborn ; Intensive Care, Neonatal ; Molecular Biology ; Muscle Hypotonia ; Parents ; Prader-Willi Syndrome

No abstract available.
Embryonic Structures* ; Fluorescence* ; Humans* ; In Situ Hybridization* ; Preimplantation Diagnosis*

No abstract available.
Fluorescence* ; In Situ Hybridization*

It was reported that the etiologies of recurrent spontaneous abortion are immunologic factors, endocrinologic problems, anatomical abnormalities, genetic abnormalities, infection, and unexplained factors. Among those etiologic factors, genetic abnormalities occur in about 5% of the couples who experience recurrent spontaneous abortions, and most common parental chromosomal abnormality contributing to recurrent abortion is balanced translocation. The advent of in vitro fertilization (IVF), the development of skills associated with the handling of human embryo, and an explosion of knowledge in molecular biology have opened the possibility of early diagnosis of genetic disease in preimplantation embryos. Therefore preimplantation genetic diagnosis (PGD) is indicated for couples, infertile or not, at risk of transmitting a genetic disease. A case of successful pregnancy and term delivery by PGD using fluorescence in situ hybridization (FISH) technique in patient with recurrent spontaneous abortion due to balanced translocation is presented with brief review of literatures.
Abortion, Habitual ; Abortion, Spontaneous ; Blastocyst ; Chromosome Aberrations ; Early Diagnosis ; Embryonic Structures ; Explosions ; Family Characteristics ; Female ; Fertilization in Vitro ; Fluorescence ; Humans ; Immunologic Factors ; In Situ Hybridization ; Molecular Biology ; Parents ; Pregnancy ; Preimplantation Diagnosis ; Prostaglandins D

A yeast-like strain was isolated from the brain abscess of a patient diagnosed with astrocytoma. Morphological and molecular analysis on D1/D2 domain in the 26S rRNA gene and internal transcript spacer region of the strain revealed that the strain belonged to the genus Pseudozyma. To the best of our knowledge, this is the first report on the isolation of a Pseudozyma strain from brain abscess.
Aged ; Astrocytoma/*complications ; Brain Abscess/complications/diagnosis/*microbiology ; Brain Diseases/*complications ; DNA, Fungal/genetics ; Humans ; Male ; Mycological Typing Techniques ; Phylogeny ; RNA, Ribosomal/genetics ; Ustilaginales/classification/genetics/*isolation &purification

The Philadelphia chromosome was the first genetic abnormality discovered in cancer (in 1960), and it was found to be consistently associated with CML. The description of the Philadelphia chromosome ushered in a new era in the field of cancer cytogenetics. Accumulating genetic data have been shown to be intimately associated with the diagnosis and prognosis of neoplasms; thus, karyotyping is now considered a mandatory investigation for all newly diagnosed leukemias. The development of FISH in the 1980s overcame many of the drawbacks of assessing the genetic alterations in cancer cells by karyotyping. Karyotyping of cancer cells remains the gold standard since it provides a global analysis of the abnormalities in the entire genome of a single cell. However, subsequent methodological advances in molecular cytogenetics based on the principle of FISH that were initiated in the early 1990s have greatly enhanced the efficiency and accuracy of karyotype analysis by marrying conventional cytogenetics with molecular technologies. In this review, the development, current utilization, and technical pitfalls of both the conventional and molecular cytogenetics approaches used for cancer diagnosis over the past five decades will be discussed.
Chromosome Aberrations ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Leukemia/diagnosis/genetics/pathology ; Neoplasms/*diagnosis/genetics/pathology ; Prognosis

This study was undertaken to establish a noninvasive prenatal genetic diagnostic method for trisomy 21 using the fetal nRBCs that is rarely present in maternal circulation. Peripheral venous blood samples were collected from 30 women with an advanced maternal age, abnormal triple marker test results, or abnormal ultrasound findings such as an increased nuchal translucency. The blood samples were treated with heparin. The triple density gradient centrifugation, and MACS using CD45 and CD71 were used to isolate the fetal cells. FISH analysis using probe 21 was performed with GPA-immunostaining. The study population consisted of 30 patients from 13 to 25 weeks of gestation, and nRBCs were separated in all cases. In GPA-immuno FISH analysis using probe 21, 3 cases of trisomy 21 were diagnosed and these results were confirmed by the amniocentesis. In conclusion, a prenatal diagnosis of trisomy 21 through GPA- immuno fluorescence in situ hybridization (FISH) analysis using separated fetal nRBCs is a useful, innovative, accurate, rapid and non-invasive diagnostic method.
Adolescent ; Adult ; Down Syndrome/*diagnosis ; Female ; Human ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Pregnancy/*blood ; Prenatal Diagnosis/*methods

This study was undertaken to establish a noninvasive prenatal genetic diagnostic method for trisomy 21 using the fetal nRBCs that is rarely present in maternal circulation. Peripheral venous blood samples were collected from 30 women with an advanced maternal age, abnormal triple marker test results, or abnormal ultrasound findings such as an increased nuchal translucency. The blood samples were treated with heparin. The triple density gradient centrifugation, and MACS using CD45 and CD71 were used to isolate the fetal cells. FISH analysis using probe 21 was performed with GPA-immunostaining. The study population consisted of 30 patients from 13 to 25 weeks of gestation, and nRBCs were separated in all cases. In GPA-immuno FISH analysis using probe 21, 3 cases of trisomy 21 were diagnosed and these results were confirmed by the amniocentesis. In conclusion, a prenatal diagnosis of trisomy 21 through GPA- immuno fluorescence in situ hybridization (FISH) analysis using separated fetal nRBCs is a useful, innovative, accurate, rapid and non-invasive diagnostic method.
Adolescent ; Adult ; Down Syndrome/*diagnosis ; Female ; Human ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Pregnancy/*blood ; Prenatal Diagnosis/*methods

The identification of circulating tumor cells (CTCs) is clinically important for diagnosing cancer. We have previously developed a size-based filtration platform followed by epithelial cell adhesion molecule immunofluorescence staining for detecting CTCs. To characterize CTCs independently of cell surface protein expression, we incorporated a chromosomal fluorescence in situ hybridization (FISH) assay to detect abnormal copy numbers of chromosomes in cells collected from peripheral blood samples by the size-based filtration platform. Aneuploid cells were detected in the peripheral blood of patients with lung cancer. Unexpectedly, aneuploid cells were also detected in the control group, which consisted of peripheral blood samples from patients with benign lung diseases, such as empyema necessitatis and non-tuberculous mycobacterial lung disease. These findings suggest that chromosomal abnormalities are observed not only in tumor cells, but also in benign infectious diseases. Thus, our findings present new considerations and bring into light the possibility of false positives when using FISH for cancer diagnosis.
Aneuploidy* ; Chromosome Aberrations ; Communicable Diseases ; Diagnosis ; Empyema ; Epithelial Cells ; Filtration ; Fluorescence ; Fluorescent Antibody Technique ; Humans ; In Situ Hybridization ; In Situ Hybridization, Fluorescence ; Lung Diseases* ; Lung Neoplasms ; Lung* ; Neoplastic Cells, Circulating