Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000–10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes. A 7-year- and 6-month-old boy experienced afebrile generalized seizure at the age of 5 years and 3 months. He had recurrent febrile seizures since 12 months of age and showed severe global developmental delay, remarkable hypotonia, short stature, and dysmorphic features such as microcephaly; small, low-set ears; dark, straight eyebrows; deep-set eyes; flat nasal bridge; midface hypoplasia; and a small, pointed chin. Previous diagnostic work-up, including conventional chromosomal analysis, revealed no definite causes. However, array-comparative genomic hybridization analysis revealed 1p36 deletion syndrome with a 9.15-Mb copy loss of the 1p36.33-1p36.22 region, and fluorescence in situ hybridization analysis (FISH) confirmed this diagnosis. This case highlights the need to consider detailed chromosomal study for patients with delayed development and epilepsy. Furthermore, 1p36 deletion syndrome should be considered for patients presenting seizure and moderate-to-severe developmental delay, particularly if the patient exhibits dysmorphic features, short stature, and hypotonia.
Chin ; Comparative Genomic Hybridization ; Diagnosis ; Ear ; Epilepsy ; Eyebrows ; Fluorescence* ; Heart Defects, Congenital ; Humans ; In Situ Hybridization* ; Infant ; Infant, Newborn ; Intellectual Disability ; Karyotyping ; Male ; Microcephaly ; Muscle Hypotonia ; Nucleic Acid Hybridization* ; Phenotype ; Seizures ; Seizures, Febrile

The short report will be focused on helping our students to understand commonly used conventional and cutting edge cytogenetic techniques and their clinical applications, the advances and drawbacks of each technique, and how to pick the right test(s) for a specific patient in order to achieve a proper diagnosis efficiently and economically.
Chromosomes ; ultrastructure ; Cytogenetic Analysis ; Cytogenetics ; methods ; Genetic Techniques ; Humans ; In Situ Hybridization, Fluorescence ; Molecular Diagnostic Techniques ; Nucleic Acid Hybridization ; Oligonucleotide Array Sequence Analysis ; Translocation, Genetic

Molecular techniques are increasingly being employed in the field of dermatology, helping to facilitate the diagnosis and prognostication of a variety of skin diseases, in addition to guiding the selection of appropriate treatment, monitoring of therapy and identification of novel therapeutic targets. A basic knowledge of the principles of molecular diagnostics is now essential for physicians involved in the diagnosis and/or treatment of skin diseases, primarily dermatopathologists and dermatologists. Essentially, molecular diagnostic testing involves the analysis of nucleic acids (DNA and/or RNA) with a wide variety of laboratory methods. Nucleic acid amplification methods have traditionally dominated this field, with the most readily recognizable of these being polymerase chain reaction (PCR). Newer technologies are now being incorporated and can facilitate parallel gene analyses (i.e.,cDNA/oligonucleotide microarrays) and/or correlation of genomic changes with morphological features of disease [i.e., fluorescence in situ hybridization (FISH)]. This discussion provides an overview of the principles of molecular technologies most frequently used in dermatology and highlights their applications in particular disease categories.

Dermatology ; Genomics ; In Situ Hybridization, Fluorescence ; Molecular Diagnostic Techniques ; Nucleic Acid Amplification Techniques ; Oligonucleotide Array Sequence Analysis ; Polymerase Chain Reaction ; Skin Diseases

OBJECTIVETo investigate the procedure and the value of G-banding, fluorescence in sit hybridization (FISH) and comparative genomic hybridization (CGH) techniques in prenatal diagnosis.

METHODSKaryotype analyses with three diagnostic procedures, G-banding, G-banding and FISH, G-banding, FISH and CGH, were performed in the amniotic fluid samples taken from 102 fetuses at gestational ages 16-24 weeks. And the significance was valued in prenatal diagnosis.

RESULTSIn the first procedure of karyotype analysis, 98 cases were diagnosed, 2 cases were not conformed while 2 cases were failed in all 102 cases. In the second procedure, 2 cases were determined, 1 case was not conformed and 1 case was still failed. In the third step, 2 cases were diagnosed. The diagnostic rate of the karyotype reached to 100% (102/102 cases) using all the three procedures. In total, seven cases with chromosomal abnormality were diagnosed. Four cases, 1 case and 2 cases were identified in the first step (4/7, 57.1%), the second (1/7, 14.3%) and the third (2/7, 28.5%), respectively.

CONCLUSIONIt can help improve the diagnostic rate of chromosomal aberrations and standardize diagnostic procedure to perform the three detecting steps in prenatal diagnosis.

Chromosome Aberrations ; statistics & numerical data ; Chromosome Banding ; methods ; Chromosome Disorders ; diagnosis ; genetics ; Chromosomes, Human, Pair 18 ; Comparative Genomic Hybridization ; methods ; Female ; Fetus ; Gestational Age ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability ; genetics ; Karyotyping ; methods ; Male ; Nucleic Acid Hybridization ; methods ; Pregnancy ; Prenatal Diagnosis ; statistics & numerical data ; Risk Factors ; Ultrasonography, Prenatal ; methods

Partial trisomy 1q syndrome is a rare chromosomal abnormality. We report on a male infant with 46,XY,der(11)t(1;11)(q41;p15.5) due to unbalanced segregation of the maternal reciprocal balanced translocation 46,XX,t(1;11)(q41;p15.5). The baby presented with a mild phenotype, characterized by a triangular face, almond-shaped eyes, low ears, short stature with relatively long legs, and mild psychomotor retardation. We utilized whole genomic array comparative genome hybridization (CGH) with 4,000 selected bacterial artificial chromosomes (BACs) to define the chromosomal breakpoints and to delineate the extent of the partial trisomy in more detail. To our knowledge, this is the first case of nearly pure "partial trisomy 1q41" defined by whole genomic array CGH.
Chromosomes, Human, Pair 1/*genetics ; Chromosomes, Human, Pair 11 ; Comparative Genomic Hybridization ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Male ; Oligonucleotide Array Sequence Analysis ; Phenotype ; Translocation, Genetic ; *Trisomy

Comparative Genomic Hybridization ; methods ; DNA ; Gene Expression Profiling ; methods ; Genetics, Medical ; methods ; Humans ; In Situ Hybridization, Fluorescence ; Oligonucleotide Array Sequence Analysis ; methods

OBJECTIVETo explore the value of multiplex fluorescence in situ hybridization (M-FISH) in the detection of the complex chromosomal aberrations (CCAs) in multiple myeloma (MM).

METHODSM-FISH was used in 10 MM patients with CCAs detected by conventional cytogenetics (CC) using R-banding to refine the rearrangement of CCAs and identify the characteristics of marker chromosome.

RESULTSM-FISH confirmed the 29 structural aberrations shown by CC analysis, and also confirmed the specific source of 21 types of chromosomal aberration, which were not detected by CC analysis. Among them, t(2;15)(q33;q22), t(6;7)(q23;q34), t(8;11) (q24;q23), t(1;14)(q10;q32) and t(X;1)(q26;q25) were new chromosomal aberrations. The median survival time of 9 MM patients with CCAs was 23 months and evidently shorter than that of MM patients without CCAs, with the mean survival time being 34 months.

CONCLUSIONM-FISH could refine CCAs in MM patients, find or correct the missed or misidentified abnormalities analyzed by CC. It has provided one of the essential methods for the research of chromosomal aberrations in MM.

Chromosome Aberrations ; classification ; Chromosome Banding ; methods ; Cytogenetics ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; methods ; Multiple Myeloma ; diagnosis ; genetics ; Nucleic Acid Hybridization ; Translocation, Genetic

OBJECTIVE: To identify the origin of the marker chromosome in a patient with chromosome aberration, and to provide the precise genetic diagnosis. METHODS: Comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH) were performed to detect the known small marker chromosome in this patient. RESULTS: The small marker chromosome originated from chromosome 13 pter->q12. CONCLUSION CGH and FISH can be used to detect the small marker chromosome, which is convenient and quick in detecting the origin of small marker chromosome.
Chromosome Aberrations ; Chromosome Deletion ; Chromosomes, Human, Pair 13 ; genetics ; Female ; Genome, Human ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Nucleic Acid Hybridization ; methods

BACKGROUND: Peptide nucleic acid (PNA) probes are artificial DNA analogues with a hydrophobic nature that can penetrate the mycobacterial cell wall. We evaluated a FISH method for simultaneous detection and identification of Mycobacterium tuberculosis (MTB) and non-tuberculous mycobacteria (NTM) in clinical respiratory specimens using differentially labeled PNA probes. METHODS: PNA probes targeting the mycobacterial 16S ribosomal RNA were synthesized. The cross-reactivity of MTB- and NTM-specific probes was examined with reference strains and 10 other frequently isolated bacterial species. A total of 140 sputum specimens were analyzed, comprising 100 MTB-positive specimens, 21 NTM-positive specimens, and 19 MTB/NTM-negative specimens; all of them were previously confirmed by PCR and culture. The PNA FISH test results were graded by using the United States Centers for Disease Control and Prevention-recommended scale and compared with the results from the fluorochrome acid-fast bacterial stain. RESULTS: The MTB- and NTM-specific PNA probes showed no cross-reactivity with other tested bacterial species. The test results demonstrated 82.9% agreement with the culture results with diagnostic sensitivity of 80.2% and diagnostic specificity of 100.0% (kappa=0.52, 95% confidence interval: 0.370-0.676). CONCLUSIONS: Dual-color PNA FISH showed high specificity for detecting and identifying mycobacteria in clinical specimens. However, because of its relatively low sensitivity, this method could be more applicable to culture confirmation. In application to direct specimens, the possibility of false-negative results needs to be considered.
Cell Wall ; Centers for Disease Control and Prevention (U.S.) ; DNA ; Fluorescence* ; In Situ Hybridization* ; Mycobacterium tuberculosis* ; Nucleic Acid Probes* ; Peptide Nucleic Acids ; Polymerase Chain Reaction ; RNA, Ribosomal, 16S ; Sputum

BACKGROUND: The most consistent chromosomal abnormality in ependymomas, is loss of 22q (17-75%) and gain of 1q (0-50%). However, significance of this abnormality is uncertain. METHODS: Genomic imbalances in 27 Korean ependymomas, including 21 low grade ependymomas, 4 anaplastic and 2 myxopapillary ependymomas, were analyzed by degenerate oligonucleotide primed-PCR-comparative genomic hybridization. RESULTS: Common gains were found in 17 (63%), 20q (59%), 9q34 (41%), 15q24-qter (33%), 11q13 (30%), 12q23 (26%), 7q23-qter (26%), 16q23-qter (30%), 19 (26%), and 1q32-qter (22%). DNA amplification was identified in 12 tumors (44%). Chromosomal loss was a less common occurrence in our study, but was found in 13q (26%), 6q (19%), and 3 (11%). CONCLUSION: The recurrent gains or losses of the chromosomal regions which were identified in this study provide candidate regions that may be involved in the development and progression of ependymomas.
Chromosome Aberrations ; Comparative Genomic Hybridization ; DNA ; Ependymoma* ; Nucleic Acid Hybridization* ; Polymerase Chain Reaction