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1.
Rev. ADM ; 75(5): 290-294, sept.-oct. 2018. ilus
Article in Spanish | LILACS | ID: biblio-980210

ABSTRACT

El italiano Antonio Riga describe una lesión ulcerativa en el vientre lingual relacionada con traumatismo crónico por los órganos dentales de erupción atípica prematura, no fue hasta que el italiano Francesco Saverio Fede, en 1890 realizó la primera publicación de la entidad patológica. En 2002, la Sociedad Argentina de Dermatología incluyó la úlcera eosinófila de la mucosa oral dentro de la clasificación de Fitzpatrick. La presencia de los dientes neonatales y natales se origina por una alteración en conjunto de los cromosomas 4, 5 y 14 (AU)


The Italian Antonio Riga describes an ulcerative injury in the lingual belly related to chronic traumatism by the dental organs of a premature atypical eruption, it was not until the Italian Francesco Saverio Fede, in 1890, made the first publication of the pathological entity. In 2002, the Argentinean Society of Dermatology included the eosinophilic ulcer of the oral mucous within the classification of Fitzpatrick. The presence of the neonatal and natal teeth is caused by a combined alteration of chromosomes 4, 5 and 14 (AU)


Subject(s)
Humans , Male , Infant , Chromosomes, Human, Pair 14 , Oral Ulcer , Natal Teeth , Tooth Eruption , Tooth Extraction , Biopsy , Composite Resins , Dental Service, Hospital , Diagnosis, Differential , Mexico
2.
Braz. j. med. biol. res ; 50(7): e6172, 2017. tab, graf
Article in English | LILACS | ID: biblio-839317

ABSTRACT

Several groups have demonstrated that healthy individuals can present the t(14;18) translocation. In this report, the presence of the translocation was examined in healthy blood donors in Brazil, a country considered an ethnic melting pot. The translocation was detected by nested PCR in 227 peripheral blood samples from individuals with different ethnic backgrounds. The t(14;18) translocation was found in 45 of 85 White individuals (52.94%); in 57 of 72 Black individuals (79.17%); and in 68 of 70 individuals (97.14%) of Japanese-descent. In conclusion, the frequency of the t(14;18) translocation in the Brazilian population varies according to the ethnic background.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Young Adult , Chromosomes, Human, Pair 14 , Chromosomes, Human, Pair 18 , Lymphoma, Follicular/ethnology , Lymphoma, Follicular/genetics , Translocation, Genetic , Blood Donors , Brazil/ethnology , Ethnicity , Polymerase Chain Reaction
3.
National Journal of Andrology ; (12): 65-68, 2017.
Article in Chinese | WPRIM | ID: wpr-812808

ABSTRACT

Objective@#To explore the relationship between the clinical and genetic features of a short-statured azoospermia male with the karyotype of 45,X.@*METHODS@#Using GTG-banded chromosome analysis, we performed karyotyping for a 150 cm-high infertile male with azoospermia and investigated the presence and location of the genes on the Y chromosome by FISH and PCR.@*RESULTS@#GTG-banded chromosome analysis showed the karyotype of the patient to be 45,X,add(14)(p11). The results of PCR manifested the deletion of AZFa, AZFb, AZFc, and AZFd in the SRY gene. FISH revealed the translocation of the short arm of the Y chromosome to that of chromosome 14 and deletion of most proportions of its long arm, with the disruption site close to the centromere region. The karyotype of the patient was 45,X,der(Y)t(Y;14)(q11;q11.2), 14.ish (SRY+, CEP Y+ , DYZ1-).@*CONCLUSIONS@#The karyotype of the patient was unbalanced Y/14 translocation. The SRY gene is the key to maleness. The deletion of AZFa- d induces spermatogenic disturbance, and the deletion of the q arm of the Y chromosome may be related with short stature.


Subject(s)
Humans , Male , Azoospermia , Genetics , Chromosome Banding , Chromosome Deletion , Chromosomes, Human, Pair 14 , Genetics , Chromosomes, Human, Y , Genetics , Gonadal Dysgenesis , Genetics , Infertility, Male , Genetics , Karyotyping , Methods , Polymerase Chain Reaction , SOXB1 Transcription Factors , Genetics , Translocation, Genetic , Genetics
4.
Chinese Journal of Medical Genetics ; (6): 671-675, 2017.
Article in Chinese | WPRIM | ID: wpr-344199

ABSTRACT

<p><b>OBJECTIVE</b>To report on the first case with chromosome 14q12 triplication involving the FOXG1 gene.</p><p><b>METHODS</b>The clinical, radiological and array-based comparative genomic hybridization (aCGH) data of a patient was analyzed, in addition with a literature review.</p><p><b>RESULTS</b>The 9-year-old girl has suffered from severe psychomotor delay, infantile spasms, severe mental retardation, absent language, autistic spectrum disorders, impaired ambulation, poor functional hand use and microcephaly, which were considered as manifestation of FOXG1 related diseases. Magnetic resonance imaging has documented heterotopic gray matter changes. aCGH showed a 1.9 Mb triplication in the 14q12 region, which involved the FOXG1 and a predicted gene 14orf23.</p><p><b>CONCLUSION</b>For patients with early-onset severe psychomotor retardation, epilepsy, microcephaly, severe cognitive impairment and encephalodysplasia, analysis of copy number variations and mutations of the FOXG1 gene is crucial for the diagnosis.</p>


Subject(s)
Child , Female , Humans , Autism Spectrum Disorder , Genetics , Chromosomes, Human, Pair 14 , Comparative Genomic Hybridization , DNA Copy Number Variations , Forkhead Transcription Factors , Genetics , Intellectual Disability , Genetics , Magnetic Resonance Imaging , Microcephaly , Genetics , Nerve Tissue Proteins , Genetics
5.
Chinese Journal of Medical Genetics ; (6): 361-364, 2016.
Article in Chinese | WPRIM | ID: wpr-247672

ABSTRACT

<p><b>OBJECTIVE</b>To analyze a child with mental retardation, growth retardation and language development disorders.</p><p><b>METHODS</b>Conventional G-banding analysis was performed on chromosomes cultivated from peripheral blood samples derived from the child and her parents. Array-comparative genomic hybridization (aCGH) was performed to detect minor structural chromosomal abnormalities, and the result was confirmed by short tandem repeats (STR) analysis.</p><p><b>RESULTS</b>For the child and her parents, no karyotypic abnormality was detected. However, aCGH analysis has identified a 14q22.1 deletion in the child. The microdeletion, with a size of 2.9 Mb was confirmed by STR analysis.</p><p><b>CONCLUSION</b>The 2.9 Mb chromosomal microdeletion probably underlies the mental retardation, growth retardation and language development disorders in the child.</p>


Subject(s)
Child, Preschool , Female , Humans , Abnormalities, Multiple , Genetics , Chromosome Deletion , Chromosomes, Human, Pair 14 , Comparative Genomic Hybridization , Microsatellite Repeats , Phenotype
6.
Chinese Journal of Medical Genetics ; (6): 13-16, 2016.
Article in Chinese | WPRIM | ID: wpr-287960

ABSTRACT

<p><b>OBJECTIVE</b>To study the clinical features and diagnosis of 7 patients with atypical mantle cell lymphoma (MCL).</p><p><b>METHODS</b>The 7 MCL patients were misdiagnosed as chronic lymphocytic leukemia (CLL) due to a score of 4 for their immunophenotypes. The clinical features and diagnosis of such patients were retrospectively analyzed.</p><p><b>RESULTS</b>Six patients had superficial lymphadenectasis but their lymph nodes could not be palpated. All 7 patients were as stage IV considering bone marrow infiltration. Scores of immunophenotype of CLL were 4, and interphase fluorescence in situ hybridization (FISH) for t(11;14) were positive in all patients.</p><p><b>CONCLUSION</b>Some MCL patients have clinical features similar to CLL. Interphase FISH can play an important role in the diagnosis of MCL.</p>


Subject(s)
Aged , Female , Humans , Male , Middle Aged , Chromosomes, Human, Pair 11 , Genetics , Chromosomes, Human, Pair 14 , Genetics , In Situ Hybridization, Fluorescence , Methods , Lymphoma, Mantle-Cell , Diagnosis , Genetics , Translocation, Genetic
8.
Korean Journal of Ophthalmology ; : 285-293, 2015.
Article in English | WPRIM | ID: wpr-229273

ABSTRACT

PURPOSE: The incidence and clinical correlation of MALT1 translocation and chromosomal numerical aberrations in Korean patients with ocular adnexal mucosa associated lymphoid tissue (MALT) lymphoma have not yet been reported. We investigated the incidence and clinicopathologic relationship of these chromosomal aberrations in ocular adnexal MALT lymphomas in a Korean population. METHODS: Thirty ocular adnexal MALT lymphomas were investigated for the t(11;18) API2-MALT1, t(14;18) IgH-MALT1 translocations and chromosomes 3 and 18 aneuploidies using fluorescence in situ hybridization. Patient medical records were reviewed retrospectively for information on demographics and clinical characteristics, including treatment response. RESULTS: The MALT1 gene rearrangement was found in one out of 30 cases. The t(14;18) IgH-MALT1 translocation was demonstrated in only one case (3.3%), and the t(11;18) API2-MALT1 translocation was not found in any of the cases. Trisomy 3 was observed in three ocular adnexal MALT lymphomas (10.0%), and five cases showed trisomy 18 (16.7%). Translocation positive cases also showed trisomy 18. One case of tumor relapse showed trisomy 18 only in the recurrent biopsies. There were no statistically significant correlations between chromosomal aberrations and clinical characteristics and treatment responses. CONCLUSIONS: Translocations involving the MALT1 gene are not common in Korean ocular adnexal MALT lymphomas. The t(14;18) translocation was detected in only one out of 30 cases, and the t(11;18) translocation was not found at all. Furthermore, the chromosomal aberrations found in this study had no prognostic implications.


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Chromosome Aberrations , Chromosomes, Human, Pair 14 , Chromosomes, Human, Pair 18/genetics , Eye Neoplasms/diagnosis , In Situ Hybridization, Fluorescence , Incidence , Lymphoma, B-Cell, Marginal Zone/diagnosis , Republic of Korea/epidemiology , Translocation, Genetic
9.
Chinese Journal of Medical Genetics ; (6): 472-475, 2015.
Article in Chinese | WPRIM | ID: wpr-288051

ABSTRACT

<p><b>OBJECTIVE</b>To identify the candidate chromosomal region for congenital preauricular fistula (CPF) through analysis of an affected Chinese family.</p><p><b>METHODS</b>Conventional linkage analysis using short tandem repeats (STR) markers was performed to investigate three chromosomal regions 8q11.1-q13.3, 1q32-q34.3 and 14q31.1-q31.3.</p><p><b>RESULTS</b>None of 16 STRs could attain a LOD score of more than -2.0 (theta=0). Therefore, the three regions were all excluded as the candidate region for the disease.</p><p><b>CONCLUSION</b>CPF features high genetic heterogeneity. The family may have a causative gene elsewhere. Whole-genome-based study is needed to identify its genetic etiology.</p>


Subject(s)
Adult , Female , Humans , Male , Asian People , Genetics , China , Chromosomes, Human, Pair 1 , Genetics , Chromosomes, Human, Pair 14 , Genetics , Chromosomes, Human, Pair 8 , Genetics , Craniofacial Abnormalities , Genetics , Lod Score , Microsatellite Repeats , Pedigree
10.
Bogotá; IETS; dic. 2014.
Non-conventional in Spanish | LILACS, BRISA | ID: biblio-875818

ABSTRACT

INTRODUCCIÓN: la enfermedad de Alzheimer (EA) es una enfermedad neurodegenerativa de evolución progresiva que representa el tipo más común de demencia. El riesgo de presentar enfermedad de Alzheimer familiar (EAF) puede aumentar 2 a 4 veces entre los individuos que tienen un familiar de primer grado con la enfermedad, para la cual se han identificado mutaciones en tres genes, definidas como causales (PSEN-1, PSEN-2 y APP). OBJETIVO: evaluar la utilidad del estudio molecular de los genes PSEN-1, PPA, PSEN-2 (cromosomas 14, 21 y 1) en el diagnóstico de enfermedad de Alzheimer de inicio temprano (EAIT). METODOLOGÍA: se realizó una búsqueda de evidencia en las bases de datos: MEDLINE, EMBASE, la Librería Cochrane y LILACS. Dos evaluadores de manera independiente, tamizaron las referencias obtenidas, resolviendo las discrepancias por consenso. Se identificaron únicamente estudios descriptivos, a partir de los cuales se basan los resultados del presente informe. RESULTADOS: se identificaron 5 estudios descriptivos. Los estudios confirman la identificación de los 3 genes determinantes en la aparición de la enfermedad de EAIT; las mutaciones más frecuentemente identificadas son las pertenecientes al gen PSEN-1. CONCLUSIONES: el estudio molecular de los genes PSEN-1, PSEN-2 y PPA en pacientes con demencia de inicio temprano (< de 65 años) e historia familiar de demencia, se considera el patrón de oro para el diagnóstico de EAIT de transmisión autosómico dominante.(AU)


Subject(s)
Humans , Chromosomes, Human, Pair 1/genetics , Chromosomes, Human, Pair 14/genetics , Chromosomes, Human, Pair 21/genetics , Alzheimer Disease/diagnosis , Cost-Benefit Analysis , Colombia , Alzheimer Disease/genetics
11.
Cell Journal [Yakhteh]. 2014; 16 (3): 377-382
in English | IMEMR | ID: emr-149856

ABSTRACT

Complex chromosomal rearrangements [CCRs] are rare events involving more than two chromosomes and over two breakpoints. They are usually associated with infertility or sub fertility in male carriers. Here we report a novel case of a CCR in a 30-year-old oligoasthenosperm man with a history of varicocelectomy, normal testes size and normal endocrinology profile referred for chromosome analysis to the Genetics unit of Royan Reproductive Biomedicine Research Center. Chromosomal analysis was performed using peripheral blood lymphocyte cultures and analyzed by GTG banding. Additional tests such as C-banding and multicolor fluorescence in situ hybridization [FISH] procedure for each of the involved chromosomes were performed to determine the patterns of the segregations. Y chromosome microdeletions in the azoospermia factor [AZF] region were analyzed with multiplex polymerase chain reaction. To identify the history and origin of this CCR, all the family members were analyzed. No micro deletion in Y chromosome was detected. The same de novo reciprocal exchange was also found in his monozygous twin brother. The other siblings and parents were normal. CCRs are associated with male infertility as a result of spermatogenic disruption due to complex meiotic configurations and the production of chromosomally abnormal sperms. These chromosomal rearrangements might have an influence on decreasing the number of sperms


Subject(s)
Humans , Male , Chromosomes , Chromosome Aberrations , Karyotype , In Situ Hybridization, Fluorescence , Spermatogenesis , Oligospermia , Chromosomes, Human, Pair 13 , Chromosomes, Human, Pair 14 , Chromosomes, Human, Pair 16 , Chromosomes, Human, Pair 18
13.
Journal of Genetic Medicine ; : 52-56, 2013.
Article in English | WPRIM | ID: wpr-83940

ABSTRACT

Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method for detecting DNA copy number changes, in place of traditional karyotype analysis. However, the array CGH shows a limitation for detecting the low-level mosaicism. Here, we report the detailed clinical and cytogenetic findings of patient with low-frequency mosaic trisomy 14, initially considered normal based on usual cut-off levels of array CGH, but confirmed by G-banding karyotyping. Our patient had global developmental delay, short stature, congenital heart disease, craniofacial dysmorphic features, and dark skin patches over her whole body. Estimated mosaicism proportion was 23.3% by G-banding karyotyping and 18.0% by array CGH.


Subject(s)
Humans , Chromosome Aberrations , Chromosomes, Human, Pair 14 , Comparative Genomic Hybridization , Cytogenetics , DNA Copy Number Variations , Heart Diseases , Hypogonadism , Intellectual Disability , Karyotype , Karyotyping , Mitochondrial Diseases , Mosaicism , Ophthalmoplegia , Phenotype , Skin , Trisomy
14.
Annals of Laboratory Medicine ; : 248-254, 2013.
Article in English | WPRIM | ID: wpr-105290

ABSTRACT

BACKGROUND: We reviewed patients with multiple myeloma (MM) in order to assess the incidence of genetic abnormalities and their associations with clinical parameters, risk groups, and prognosis. METHODS: A total of 130 patients with MM were enrolled. The incidences of genetic abnormalities were determined in all patients. The relationships of the genetic abnormalities and clinical parameters were investigated. In addition, a survival analysis was performed. RESULTS: Abnormal karyotypes were detected in 42.3% (N=55) of the patients, and this was increased to 63.1% (N=82) after including the results determined with interphase FISH. Hypodiploidy was observed in 7.7% (N=10) of the patients, and all were included in the group with complex karyotypes (30.8%, N=40). The 14q32 rearrangements were detected in 29.2% (N=38) of the patients, and these most commonly included t(11;14), which was followed by t(4;14) and t(14;16) (16.2%, 11.5%, and 0.8%, respectively). Abnormal karyotypes and complex karyotypes were associated with disease progression markers, including low hemoglobin levels, low platelet counts, high plasma cell burden, high beta2-microglobulin, and high international staging system stages. A high free light chain (FLC) ratio and FLC difference were associated with abnormal karyotypes, complex karyotypes, and higher plasma cell burden. Hypodiploidy and low platelet counts were significant independent prognostic factors and were more important in patient outcome than any single abnormality. CONCLUSIONS: Genetic abnormalities were associated with disease progression markers and prognosis of MM patients.


Subject(s)
Aged , Female , Humans , Male , Middle Aged , Chromosome Aberrations , Chromosomes, Human, Pair 14 , Hemoglobins/analysis , Karyotyping , Multiple Myeloma/diagnosis , Neoplasm Staging , Platelet Count , Prognosis , Proportional Hazards Models , Survival Analysis , Translocation, Genetic
15.
Annals of Laboratory Medicine ; : 69-74, 2013.
Article in English | WPRIM | ID: wpr-119337

ABSTRACT

We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.


Subject(s)
Child , Child, Preschool , Female , Humans , Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 14 , Chromosomes, Human, Pair 4 , Karyotyping , Translocation, Genetic , Trisomy
16.
Indian J Hum Genet ; 2012 Jan; 18(1): 130-133
Article in English | IMSEAR | ID: sea-139461

ABSTRACT

In this case report we describe a child with a de novo deletion in the (q11.2q13) region of chromosome 14. The child presented with dysmorphic features - anophthalmia, microcephaly, and growth retardation. Cytogenetic studies showed mosaicism. The karyotype was 46,XX,del(14)(q11.2;q13) [16] /46,XX [9]. We compared the features observed in this child with that of others with the same deletion reported in scientific literature and found that this is the first report of a child mosaic for this deletion. It is also the first time it has been reported in association with anophthalmia.


Subject(s)
Anophthalmos/genetics , Chromosome Deletion , Chromosome Disorders/genetics , Chromosomes, Human, Pair 14/genetics , Female , Humans , Infant , Microcephaly/genetics , Mosaicism/genetics
17.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 324-327, 2012.
Article in English | WPRIM | ID: wpr-233159

ABSTRACT

Herein we reported a case of follicular lymphoma with 50.26% clonal malignant lymphocytes and 50% tumor cells positive for the immunoglobulin heavy chain gene and B-cell lymphoma 2 gene (IGH-BCL2). To determine whether endothelial cells (ECs) within the tumor share the feature of advanced malignancy, we isolated and purified the ECs from the tumor by using the immunomagnetic beads conjugated with a monoclonal antibody against CD34, a surface marker of ECs. Thereafter, we identified ECs according to their morphology and found that ECs presented consistently flat and elongated appearance with a lot of Weibel-Palade bodies in the cytoplasm. Results of flow cytometry confirmed that ECs isolated from the follicular lymphoma expressed high level of both vWF and CD34 and the purity of the ECs fraction was more than 90%. Additionally, we used FISH to check chromosomal aberration in the purified ECs and found that some of the ECs had only one fusion signal for the green IGH probe and the red BCL2 probe in contrast to typical t(14;18)(q32;q21) translocation with two fusion signals. This phenomenon was also observed in the tumor cells. It might be a different breakpoint of IGH in this case, which induced the loss of the fusion signal, indicating t(14;18)(q32;q21) translocation. The positive cells accounted for 18% of the isolated ECs from the tumor, indicating that a proportion of ECs from follicular lymphoma had the same chromosome aberration as the neoplastic cells.


Subject(s)
Adult , Female , Humans , Cells, Cultured , Chromosomes, Human, Pair 14 , Genetics , Chromosomes, Human, Pair 18 , Genetics , Endothelial Cells , Lymph Nodes , Lymphoma, B-Cell , Genetics , Recombinant Fusion Proteins , Genetics , Translocation, Genetic , Genetics
18.
The Korean Journal of Gastroenterology ; : 56-60, 2012.
Article in Korean | WPRIM | ID: wpr-227513

ABSTRACT

Mantle cell lymphoma (MCL) is an uncommon type of gastrointestinal lymphoma. MCL is a distinct subtype of B-cell non-Hodgkin lymphomas. The major subtype of MCL is characterized by the presence of multiple lymphomatous polyposis (MLP), in which multiple polyps are observed along the gastrointestinal tract. The malignant cells express pan B-cell marker and the T-cell marker cluster of differentiation 5. The chromosomal translocation t(11;14)(q13;q32) that causes cyclin D1 overexpression is commonly observed on the cytogenetic analysis of MCL. Survival improvement has recently been achieved for patient with MCL by the successful introduction of monoclonal antibodies and dose-intensified approaches for treatment, including autologous stem cell transplantation strategies. Some reports suggest that there is an increased incidence of second malignancies in patients with MCL or lymphoma. We report a case of MCL involving the colon; the patient was a 60-year-old man who complained of low abdominal discomfort during defecation. During the workup, a meningioma was unexpectedly discovered. On analysis, the tumor was found to be a t(11;14)-negative and non-MLP-type MCL.


Subject(s)
Humans , Male , Middle Aged , Chromosomes, Human, Pair 11 , Chromosomes, Human, Pair 14 , Cyclin D1/metabolism , Lymphoma, Mantle-Cell/diagnosis , Magnetic Resonance Imaging , Meningeal Neoplasms/complications , Meningioma/complications , Positron-Emission Tomography , Translocation, Genetic
19.
Annals of Laboratory Medicine ; : 220-224, 2012.
Article in English | WPRIM | ID: wpr-214989

ABSTRACT

The most common recurrent cytogenetic abnormalities in T-lymphoblastic leukemia (T-acute lymphoblastic leukemia [T-ALL]) involve T-cell receptor (TCR) loci and a variety of partner genes, including HOX11, HOX11L2, MYC, and TAL1. In this report, we present a rare case involving simultaneous translocation of the TCR alpha/delta loci with different partner loci (Xq22 and 12p13); this resulted in a poor prognosis. Chromosomal analysis showed 46,Y,t(X;14)(q22;q11.2),t(12;14)(p13;q11.2) and FISH analysis by using a T-cell receptor alpha delta DNA probe, Split Signal (DakoCytomation, Denmark), showed translocations at the same TCR alpha/delta locus on both chromosomes. FISH with 2 bacterial artificial chromosome clones showed break apart signal, which suggests involvement of the IRS4 gene. To our knowledge, this is the first report of T-ALL in which both TCR alpha/delta loci were translocated with different partner loci, and 1 of the partner loci, Xq22, was a rare translocation partner locus that included IRS4 gene.


Subject(s)
Adult , Humans , Male , Chromosomes, Human, Pair 12 , Chromosomes, Human, Pair 14 , Chromosomes, Human, X , Genetic Loci , Insulin Receptor Substrate Proteins/genetics , Karyotyping , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/genetics , Receptors, Antigen, T-Cell/genetics , Translocation, Genetic
20.
Journal of Korean Epilepsy Society ; : 33-36, 2012.
Article in Korean | WPRIM | ID: wpr-788625

ABSTRACT

Ring chromosome 14 syndrome is a rare cytogenetic disorder characterized by typical facial appearance, developmental delay, and intractable epilepsy. There have been about 50 reported cases in the world and one case in Korea. Epilepsy is the most common and serious neurologic comorbidity of the syndrome and it typically begins at early ages and frequently becomes intractable. We report a girl with ring chromosome 14 syndrome who showed early onset intractable epilepsy with repetitive episodes of clustering seizures. We describe the case and the result of long term follow-up for the epilepsy. The early suspicion of the syndrome and prompt management for seizures are necessary for the favorable prognosis.


Subject(s)
Chromosomes, Human, Pair 14 , Comorbidity , Cytogenetics , Epilepsy , Follow-Up Studies , Korea , Prognosis , Ring Chromosomes , Seizures
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