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Chen J J Department of Thoracic Surgery, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian, - - 2014
Primary focal hyperhidrosis (PFH) is a disorder characterized by excessive sweating in the specific body areas such as palm, sole, and axilla beyond physiological need, leading to severe psychological, social, and occupational dysfunction.(1,2) The cause of primary hyperhidrosis still remains unclear. It seems to be associated with neurohumoral or secretory ...
Starr Lois J LJ University of Nebraska Medical Center and the Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, Nebraska. - - 2014
Duplications of the terminal long arm of chromosome 20 are rare chromosomal anomalies. We report a male infant found on array comparative genomic hybridization analysis to have a 19.5 Mb duplication of chromosome 20q13.12-13.33, as well as an 886 kb deletion of 20p13 at 18,580-904,299 bp. This anomaly occurred as the recombinant product ...
Liu Ai-Xia AX Department of Reproductive Endocrinology, Zhejiang University,1 Xueshi Road, Hangzhou, Zhejiang 310006, China Women's Reproductive Health key Laboratory of Zhejiang Province, Zhejiang University, Zhejiang, - - 2014
What is the optimal protocol of management for phenotypic female patients with Y chromosome or Y-derived sequences, in particular for adult patients? Immediate gonadectomy, long-term hormone therapy and psychological care are suggested to be the optimal management for older phenotypic female patients with Y chromosome or Y-derived sequences. Phenotypic female ...
Jabbour Elias E Department of Leukemia, The University of Texas M. D. Anderson Cancer Center, Houston, - - 2014
Disease overview: Chronic Myeloid Leukemia (CML) is a myeloproliferative neoplasm with an incidence of 1-2 cases per 100,000 adults, and accounts for ∼15% of newly diagnosed cases of leukemia in adults. Diagnosis: CML is characterized by a balanced genetic translocation, t(9;22)(q34;q11.2), involving a fusion of the Abelson oncogene (ABL) from ...
Mathis Stéphane S Service de Neurologie, CHU Poitiers, Université de Poitiers, 2 rue de la Milétrie, 86021 Poitiers, France. Electronic address: - - 2014
Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are both autosomal-dominant disorders linked to peripheral myelin anomalies. CMT1A is associated with a Peripheral Myelin Protein 22 (PMP22) duplication, whereas HNPP is due to a PMP22 deletion on chromosome 17. In spite of this crucial difference, ...
Dorobek Małgorzata M 1Department of Neurology, Central Clinical Hospital of the Ministry of Interior, Warsaw, - - 2014
Facioscapulohumeral muscular dystrophy cases with facial weakness before the age of 5 and signs of shoulder weakness by the age of 10 are defined as early onset. Contraction of the D4Z4 repeat on chromosome 4q35 is causally related to facioscapulohumeral muscular dystrophy type 1, and the residual size of the ...
Matsumoto Hiroshi H Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan. Electronic address: - - 2014
Microdeletion of chromosome 9q33q34 is an emerging disease disorder associated with early infantile epileptic encephalopathy, intellectual disability, and a variety of movement disorders. We describe a male infant with early infantile epileptic encephalopathy with suppression-burst (Ohtahara syndrome) who carried a de novo 2.0-Mb microdeletion in chromosome 9q33q34, including STXBP1. The ...
Manolakos Emmanouil E Laboratory of Genetics, Eurogenetica S.A., Athens 11527, - - 2014
Proximal 10q duplication is a well-defined but rare genetic syndrome. Duplication of proximal segments of the long arm of chromosome 10 results in a pattern of malformations, which are distinct from those of the more common distal 10q trisomy syndrome. The present study describes the case of a boy with ...
Thapa Monika M WCEC Cytogenetic Laboratory, Department of Pediatrics, University of Louisville, Louisville, - - 2014
Pure/direct duplications on the long arm of chromosome 4 represent an infrequent chromosomal finding. Description of clinical findings in 30 patients has resulted in defining the 4q-associated phenotype. However, such duplications have not been molecularly or genomically characterized yet, limiting genotype-phenotype correlation. We report on the first two patients with ...
Simşek Kiper Pelin Ozlem PO Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. - - 2014
Distal 11q deletion, previously known as Jacobsen syndrome, is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical clinical features include facial dysmorphism, mild-to-moderate psychomotor retardation, trigonocephaly, cardiac defects, and thrombocytopenia. There is a significant variability in the range of clinical features. We ...
Chennuri Vasundhara V Departments of Hematology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, - - 2014
Klinefelter syndrome (KS) is a sex chromosome disorder and has been reported to be associated with increased risk for malignancies. We report a 22-year-old male patient who was diagnosed to have chronic myeloid leukemia in chronic phase. Bone marrow cytogenetic examination revealed karyotype 47, XXY, t (9; 22)(q34, q11) suggestive ...
Gómez-Seguí Inés I Hematology Department, Hospital Universitari i Politècnic La Fe, Valencia, - - 2014
Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), but additional chromosomal abnormalities (ACA) and other rearrangements can contribute in the development of the whole leukemic phenotype. We hypothesized that some ACA not detected by conventional techniques may be informative of the onset of APL. We performed the high-resolution SNP ...
Tang Guilin G Department of Hematopathology, The University of Texas MD Anderson Cancer Center Houston, TX 77030, - - 2014
Rearrangements of the MLL gene located at chromosome 11q23 are common chromosomal abnormalities associated with acute leukemias. In vast majority of cases with MLL gene rearrangements, only one chromosome 11 or a single MLL allele got involved. We report two very unusual cases of myeloid neoplasms with homozygous inv(11)(q21q23) and ...
Mucciolo M M U.O.C. Genetica Medica, Policlinico S. Maria alle Scotte, Siena, - - 2013
Interstitial deletions of the long arm of chromosome 9 are rare and most patients have been detected by conventional cytogenetic techniques. Disparities in size and localization are large and no consistent region of overlap has been delineated. We report two similar de novo deletions of 6.3 Mb involving the 9q31.1q31.3 region, ...
Braggio Esteban - - 2013
Evaluation of: Avet-Loiseau H, Hulin C, Campion L et al. Chromosomal abnormalities are major prognostic factors in elderly patients with multiple myeloma: the Intergroupe Francophone du Myelome experience. J. Clin. Oncol. 31(22), 2806-2809 (2013). Chromosomal abnormalities are well-established biomarkers used in the subclassification and risk stratification of multiple myeloma patients. ...
Bokemeyer Almut - - 2013
The clinical heterogeneity among first relapses of childhood ETV6/RUNX1-positive acute lymphoblastic leukemia indicates that further genetic altera-tions in leukemic cells might affect the course of salvage therapy and be of prognostic relevance. To assess the incidence and prognostic relevance of additional copy number alterations at relapse of the disease, we ...
Ockeloen Charlotte W - - 2013
To review the clinical and molecular-genetic characteristics of 34 children who were referred to the clinical genetics department with a presenting diagnosis of definite or suspected velopharyngeal insufficiency (VPI, defined as the inability to close off the nasal from the oral cavity during speech) or hyponasal/hypernasal speech. All the patients ...
Vaniawala Salil - - 2013
The primary objective of this work was to confirm the occurrence of rare BCR ABL fusion variant involving the a3 region of the ABL gene in a patient positive for t(9;22) translocation but negative for common major and minor breakpoint cluster regions and the challenges and threats that it poses ...
Rocha Cabrera P - - 2013
A 17 year-old male patient, who since 2000 has referred to a progressive bilateral decrease in visual acuity. A «bicycle wheel» macula pattern was observed in his retina. The electroretinogram showed a decrease in the b-wave amplitude. The visual evoked potentials were normal. Optical coherence tomography showed bilateral macular edema. ...
Schwaibold Eva Maria Christina EM Institute of Human Genetics, Georg August University, Göttingen, - - 2013
An increasing number of patients with 3p proximal deletions were reported in the previous decade, but the region responsible for the main features such as intellectual disability (ID) and developmental delay is not yet characterized. Here we report on two monozygotic twin brothers of 2 10/12 years and an 18-year-old ...
Tomaszewska Agnieszka A Prenatal Diagnostics and Genetic Clinic, Medical University of Silesia, Zabrze, - - 2013
Interstitial 2q deletions are very rare chromosome abnormalities. The 2q32q33 deletion was proposed as a distinct entity with characteristic phenotype. Most patients have feeding problems, growth restriction, moderate to severe developmental delay, speech delay or lack of speech, high, prominent forehead, thin sparse hair, teeth abnormalities and a high or ...
Mertz Line Granild Bie LG Department of Pediatrics, Center for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark. - - 2013
Angelman syndrome (AS) is a neurogenetic disorder caused by loss of expression of the maternal imprinted gene UBE3A on chromosome 15q11.2-q13. Clinical features of AS include severe intellectual disability, a happy disposition, ataxia, mandibular prognatism, and epilepsy. Our objectives were to examine the birth incidence of AS in Denmark and ...
Spreiz Ana - - 2013
To study genotype-phenotype correlation of ring chromosome 18 [r(18)] in 9 patients with 46,XN karyotype. In 9 patients with a de novo 46,XN,r(18) karyotype (7 females, 2 males), we performed high-resolution single-nucleotide polymorphism array analysis (Illumina Human Omni1-QuadV1 array in 6 patients, Affymetrix 6.0 array in 3 patients), investigation of ...
Wu Lingqian - - 2013
Interstitial Xp duplications have been rarely described, especially in males. Male patients show intellectual deficiency (ID) and variable congenital malformations depending on the size and the position of the duplication. Cytogenetic and molecular analyses using standard G-banding, R-banding, fluorescence in situ hybridization, and an array comparative genomic hybridization analysis for ...
Terao Chikashi C Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan; Department of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan. Electronic address: - - 2013
Takayasu arteritis (TAK) is an autoimmune systemic vasculitis of unknown etiology. Although previous studies have revealed that HLA-B*52:01 has an effect on TAK susceptibility, no other genetic determinants have been established so far. Here, we performed genome scanning of 167 TAK cases and 663 healthy controls via Illumina Infinium Human ...
Butnariu Lăcrămioara L Medical Genetics Department, University of Medicine and Pharmacy "Grigore T. Popa", - - 2013
Trisomy X (47,XXX) is a gonosomal aneuploidy characterized by the presence of an extra X chromosome in a female person. Usually the diagnosis is established made postnatally by chromosome analysis in patients with suggestive clinical signs. Clinical signs vary by age. In prepubertal patients have a growth retardation associated with ...
Mikhail Fady M - - 2013
Purpose:The five segmental duplications (LCR22-D to -H) at the distal region of chromosome 22 band q11.2 in the region immediately distal to the DiGeorge/velocardiofacial syndrome deleted region have been implicated in the recurrent distal 22q11.2 microdeletions. To date, the distal 22q11.2 microdeletions have been grouped together as a single clinical ...
Lasho Terra - - 2013
We employed High Resolution Mate-Pair Sequencing (HRMPS) in 15 patients with primary myelofibrosis (PMF): eight with normal karyotype and 7 with PMF-characteristic cytogenetic abnormalities, including der(6)t(1;6)(q21-23;p21.3) (n=4), der(7)t(1;7)(q10;p10) (n=2), del(20)(q11.2q13.3) (n=3) and complex karyotype (n=1). We describe seven novel deletions/translocations in 5 patients (including 2 with normal karyotype) whose breakpoints ...
Liu Anthony P Y - - 2013
We report on a male infant with de novo unbalanced t(5;15) translocation resulting in a 17.23 Mb deletion within 15q11.2-q14 and a 25.12 kb deletion in 5pter. The 15q11.2-q14 deletion encompassed the 15q11.2-q13 Prader-Willi syndrome (PWS) critical region and the recently described 15q13.3 microdeletion syndrome region while the 5pter deletion contained no ...
Xu Tao - - 2013
Increased expression of microRNA-323-3p (miR-323-3p) has been demonstrated in rheumatoid arthritis synovial fibroblast. The gene encoding miR-323-3p, which is a biomarker in immune and inflammatory responses, occurs in an miRNA cluster in chromosomal region 14q32.31.
Kellogg Gregory - - 2013
Several recent reports of interstitial deletions at the terminal end of the short arm of chromosome 3 have helped to define the critical region whose deletion causes 3p deletion syndrome. We report on an 11-year-old girl with intellectual disability, obsessive-compulsive tendencies, hypotonia, and dysmorphic facial features in whom a 684 kb ...
Daraki A - - 2013
Cytogenetic abnormalities play an important role in diagnosis, classification and prognosis in acute myeloid leukemia (AML). Nevertheless, several chromosome abnormalities have not been completely determined, and their prognostic significance is currently unknown due to their low incidence and the sporadic limited data. We report a case of AML-M2 with a ...
Shichiji Minobu - - 2013
The 2q23.1 deletion syndrome has been recently recognized as a neurodevelopmental disorder associated with intellectual disability, epilepsy, and autism spectrum disorder. Recently, methyl-CpG-binding domain 5 gene (MBD5), located in the 2q23.1 region, has been considered as a single causative gene of this syndrome. We report on a female patient with ...
Herráez David López - - 2013
OBJECTIVE: Identify susceptibility loci for rheumatoid arthritis (RA) in Latin American individualswith admixed European and Amerindian genetic ancestry. METHODS: Genotyping was performed on samples from 1475 patients with RA and 1213 controls using a custom BeadArray containing196,524 markers, covering loci previously associated with various autoimmune diseases. We used principal component ...
Abu-Amero Khaled K - - 2013
Abstract Background: To carefully assess the phenotype and genotype of a patient with partial mosaic trisomy 8 with particular attention to ophthalmologic features. Methods: Ophthalmologic and neuro-ophthalmologic examination; neuroimaging; conventional karyotyping; and array comparative genomic hybridization (CGH). Results: The proband was the only affected child of a non-consanguineous family. At ...
Aïssata Tolo Diebkilé - - 2013
Imatinib mesylate provides good results in the treatment of CML in general. But what about the results of this treatment in CML associated with additional cytogenetic abnormalities at diagnosis among black Africans? For this, we retrospectively studied 27 cases of CML associated with additional cytogenetic abnormalities, diagnosed in the department ...
Mc Cormack Adrian - - 2013
We report on three patients with interstitial deletions of the long arm of chromosome 2 involving bands 2q32.1-q35. They presented with wide-ranging phenotypic variation including facial dysmorphisms, cleft palate, learning difficulties, behavioural issues and severe heart defects. Microarray analysis confirmed an 8.6 Mb deletion in patients 1 and 2 and a ...
Cisternino Mariangela - - 2013
We report a girl with a de novo distal deletion of 9p affected by idiopathic central precocious puberty and intellectual disability. Genome-wide array-CGH revealed a terminal deletion of about 11 Mb, allowing to define her karyotype as 46; XX, del(9)(p23-pter). To our knowledge, this is the second reported case of precocious ...
Atik T - - 2013
This is a report of a 6 month-old boy with a partial trisomy 2p24-->pter and monosomy 18q22-->qter. This is the first case presenting this unbalanced translocation with phenotypic features. The patient had growth and developmental retardation, facial dysmorphism, cleft palate, congenital cardiopathy, hypospadias, evantration of diaphragm and deafness. Cranial MRI ...
Mersal Ali Y - - 2013
We report a case of 4 weeks old girl with a de novo interstitial deletion of the short arm of chromosome 3 (p13-p21) and clinical findings typical of proximal 3p deletion together with heart defects, choanal atresia, ear anomalies, central nervous system anomalies, renal anomalies and associated Joubert's syndrome (JS). ...
de la Hera Belén B Immunology Department, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, - - 2013
Human endogenous retroviruses (HERVs) are genomic sequences that resulted from ancestral germ-line infections by exogenous retroviruses and therefore are transmitted in a Mendelian fashion. Increased HERV expression and antibodies to HERV antigens have been found in various autoimmune diseases. HERV-K18 in chromosome 1 was previously associated with type one diabetes ...
Puvabanditsin S S Department of Pediatrics, UMDNJ-Robert Wood Johnson, Medical School, New Brunswick, New Jersey 08903, USA. - - 2013
We report on a preterm neonate with a deletion of the distal short arm of chromosome 5p15.33 and partial trisomy of the distal short arm of chromosome 3p24.3. The patient was the first-born monozygotic twin. There were no pertinent facial or physical features except a small lower lip hemangioma. The ...
Konrad Namberger - - 2012
We report a 77-year old male patient with chronic lymphocytic leukaemia (CLL), requiring the sixth line of treatment due to relapse with progressive lymphadenopathy, worsening thrombocytopenia and pronounced night sweats. First diagnosis was established 8 years earlier in 2004 with advanced stage disease (Binet C) and a high risk profile ...
Dos Santos Suely Rodrigues - - 2012
ABSTRACT: BACKGROUND: Mental retardation (MR) is a heterogeneous condition that affects 2-3% of the general population and is a public health problem in developing countries. Chromosomal abnormalities are an important cause of MR and subtelomeric rearrangements (STR) have been reported in 4-35% of individuals with idiopathic MR or an unexplained ...
Grossi Armando - - 2012
Turner syndrome is a condition caused by numeric and structural abnormalities of the X chromosome, and is characterized by a series of clinical features, the most common being short stature and gonadal dysgenesis. An increased frequency of autoimmune diseases as well as an elevated incidence of autoantibodies has been observed ...
Guilherme Roberta Santos - - 2012
Ring chromosome 10-r(10)-is a rare disorder, with 14 cases reported in the literature, but only two with breakpoint determination by high-resolution techniques. We report here on two patients presenting a ring chromosome 10, studied by G-banding, fluorescent in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and SNP-array techniques, in ...
Wu Chih-Chieh CC Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. - - 2013
Unlike genome-wide association studies, few comprehensive studies of copy number variation's contribution to complex human disease susceptibility have been performed. Copy number variations are abundant in humans and represent one of the least well-studied classes of genetic variants; in addition, known rheumatoid arthritis susceptibility loci explain only a portion of ...
Palumbo Orazio - - 2012
Interstitial deletions of chromosome 15q25.2 are rare. To date, only nine patients with microdeletions within this chromosomal region have been described. Here, we report on a girl with severe speech and psychomotor delay, behavioral problems and mild dysmorphic features with a 1.6 Mb deletion in 15q25.2 region. In order to study ...
Caye Aurélie - - 2012
Deletion of the Ikaros (IKZF1) gene is an oncogenic lesion frequently associated with BCR-ABL1-positive acute lymphoblastic leukemias. It is also found in a fraction of BCR-ABL1-negative B-cell precursor acute lymphoblastic leukemias, and early studies showed it was associated with a higher risk of relapse. Therefore, screening tools are needed for ...
Tohami Tali - - 2012
Chronic myeloid leukemia (CML) is a clonal hematological disease that represents 15-20% of all adult leukemia cases. The study and treatment of CML has contributed pivotal advances to translational medicine and cancer therapy. The discovery that a single chromosomal abnormality, the Philadelphia (Ph) chromosome, is responsible for the etiology of ...
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