Abstract:
BACKGROUND:Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments. CASE PRESENTATION:A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, multiple midline abnormalities (agenesis of the corpus callosum, imperforate anus, bilateral optic nerve hypoplasia), developmental delay, hypopigmented macules, short 5th fingers, and sleep apnea due to enlarged tonsils. Cytogenetic and fluorescence in situ hybridization analyses revealed an unbalanced translocation involving the segment distal to 16p13 replacing the segment distal to 13q33 [46, XY, der(13)t(13;16)(q33;p13.3)]. Specific BAC-probes were used to confirm the extent of the 13q deletion. CONCLUSION:This unique unbalanced chromosomal translocation may provide insights into genes important in midline development and underscores the previously-reported phenotype of Factor VII deficiency in 13q deletions.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Brooks BP,Meck JM,Haddad BR,Bendavid C,Blain D,Toretsky JAdoi
10.1186/1471-2350-7-2keywords:
subject
Has Abstractpub_date
2006-01-13 00:00:00pages
2issn
1471-2350pii
1471-2350-7-2journal_volume
7pub_type
杂志文章,评审abstract:BACKGROUND:FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical value of testing for mutations in RECQL and FANCM remains to be determined. In this study, we ha...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0524-x
更新日期:2018-01-19 00:00:00
abstract:BACKGROUND:Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine. METHODOLOGY:In this repo...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-17
更新日期:2012-03-19 00:00:00
abstract:BACKGROUND:Intervertebral disc degeneration (IVDD) is an age-related degenerative disease, presenting with low back pain or radicular pain. The inflammatory changes would occur in discs in the process of IVDD. Therefore, the inflammatory and anti-inflammatory cytokines, as well as their respective genes, have been prop...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01081-3
更新日期:2020-07-03 00:00:00
abstract:BACKGROUND:X-chromosomal inheritance patterns and generally rare occurrence of Fabry disease (FD) account for mono-mutational hemizygous male and heterozygous female patients. Female mutation carriers are usually clinically much less severely affected, which has been explained by a suggested mosaicism in cell phenotype...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0309-z
更新日期:2016-07-19 00:00:00
abstract:BACKGROUND:Left ventricular (LV) mass and wall thickness are closely associated with measures of body size and blood pressure and also correlated with systolic and diastolic function, suggesting a contribution of common physiologic mechanisms, including pleiotropic genes, to their covariation. METHODS:Doppler echocard...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-40
更新日期:2009-05-09 00:00:00
abstract:BACKGROUND:Multiple genome-wide association studies (GWAS) within European populations have implicated common genetic variants associated with insulin and glucose concentrations. In contrast, few studies have been conducted within minority groups, which carry the highest burden of impaired glucose homeostasis and type ...
journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析
doi:10.1186/1471-2350-14-98
更新日期:2013-09-25 00:00:00
abstract:BACKGROUND:Mutations of the autoimmune regulator gene (AIRE), located on chromosome 21q22.3, are recognized as the cause of a rare monogenic organ-specific autoimmune disorder called autoimmune polyglandular syndrome type 1 (APS-1). Three major components of this syndrome include chronic mucocutaneous candidiasis (CMC)...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0870-3
更新日期:2019-08-16 00:00:00
abstract:BACKGROUND:Acute myeloid leukemia (AML) is a biologically and clinically heterogeneous cancer of the bone marrow that is characterized by the rapid growth of abnormal myeloid cells. METHODS:We performed a mutational analysis to identify AML somatic mutations using the whole-exome sequencing data of 36 tumor-normal sam...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0382-y
更新日期:2017-03-01 00:00:00
abstract:BACKGROUND:Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive genetic disease that is characterized by pain, stiffness and enlargement of multiple joints with an age of onset between 3 and 8 years old. Mutations in the WISP3 (Wnt1-inducible signal pathway) gene are known to be the cause of PPD. ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0507-3
更新日期:2017-12-15 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章,评审
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abstract:BACKGROUND:It is believed that hereditary hemochromatosis (HH) might play a role in cardiac disease (heart failure (HF) and ischemia). Mutations within several genes are HH-associated, the most common being the HFE gene. In a large cohort of HF patients, we sought to determine the etiological role and the prognostic si...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-117
更新日期:2010-07-29 00:00:00
abstract:BACKGROUND:Risk gene variants for celiac disease, identified in genome-wide linkage and association studies, might influence molecular pathways important for disease development. The aim was to examine expression levels of potential risk genes close to these variants in the small intestine and peripheral blood and also...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0190-1
更新日期:2015-06-30 00:00:00
abstract:BACKGROUND:The phenotypic heterogeneity of sickle cell disease is likely the result of multiple genetic factors and their interaction with the sickle mutation. High transcranial doppler (TCD) velocities define a subgroup of children with sickle cell disease who are at increased risk for developing ischemic stroke. The ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-4-6
更新日期:2003-07-18 00:00:00
abstract:BACKGROUND:DNA methylation at specific CpG sites within gene promoter regions is known to regulate transcriptional activity in vitro. In human adipose tissue, basal transcription of the aromatase (CYP19A1) gene is driven primarily by the I.4 promoter however the role of DNA methylation in regulating expression in ex vi...
journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2013-08-30 00:00:00
abstract:BACKGROUND:Long QT syndrome (LQTS) is an autosomal dominant condition predisposing to sudden death from malignant arrhythmia. Genetic testing identifies many missense single nucleotide variants of uncertain pathogenicity. Establishing genetic pathogenicity is an essential prerequisite to family cascade screening. Many ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0176-z
更新日期:2015-05-13 00:00:00
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更新日期:2010-02-03 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2012-11-16 00:00:00
abstract:BACKGROUND:L. braziliensis causes cutaneous (CL) and mucosal (ML) leishmaniasis. Wound healing neutrophil (PMN) and macrophage responses made following the bite of the vector sand fly contribute to disease progression in mice. To look at the interplay between PMN and macrophages in disease progression in humans we aske...
journal_title:BMC medical genetics
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更新日期:2011-10-13 00:00:00
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更新日期:2010-02-17 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2010-06-17 00:00:00
abstract:BACKGROUND:This study aimed to assess the association between 14 single nucleotide polymorphisms (SNPs) in six genes (IRF8, TMEM39A, IKZF3, ORMDL3, GSDMB, and ZPBP2) and systemic lupus erythematosus (SLE) in a Chinese Han population sample. METHODS:We carried out a case-control study of 415 patients with SLE and 470 h...
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更新日期:2017-04-20 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2008-04-02 00:00:00
abstract:BACKGROUND:Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes in 50-60% and 5-8% o...
journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2016-12-13 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:2019-08-09 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2006-10-04 00:00:00
abstract:BACKGROUND:Many epidemiological studies have suggested that insulin-like growth factor1 (IGF1) gene single-nucleotide polymorphisms (SNPs) may be associated with cancer risk. Among several commonly studied polymorphisms in IGF1 gene, rs2195239 and rs2162679 attracted many attentions. So we perform a meta-analysis to de...
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pub_type: 杂志文章,meta分析
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更新日期:2019-01-17 00:00:00