Browse
Submit Data
Databases
API
Help

Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

DE NOVO 3q13.13q21.2 INTERSTITIAL DELETION AND PATERNAL 12p13.3 MICRODELETION IN A FETUS WITH DYSPLASIA OF THE CORPUS CALLOSUM AND VENTRICULOMEGALY

ABSTRACT: The 3q-syndrome is a well-known genetic condition caused by interstitial deletion in the long arm of chromosome 3. The phenotype of this syndrome is variable and the great variability in the extent of these deletions lead to a wide spectrum of clinical manifestations. Terminal 12p deletion represents one of the rarest subtelomeric imbalance, patients with distal monosomy 12p present different phenotypes ranging from muscular hypotonia to autism spectrum disorders. Here we report a prenatal diagnosis of a male fetus presenting ultrasounds evidence of corpus callosum dysplasia and ventriculomegaly showing a 3q13q21.2 deletion and a 12p13.33 microdeletion paternally inherited. Among several features previously attributed to the terminal deletion of 3q, corpus callosum dysplasia and ventriculomegaly has rarely been reported together. As the 12p13.33 microdeletion in the father was associated only to muscular hypotonia and joint laxity, involvement of terminal 12p deletions in fetus clinical features was not possible to verify in prenatal period. This report may provide a reference for prenatal diagnosis and genetic counseling in patients who have prenatal diagnosis of 3q13q21.2 deletions and 12p13.33 microdeletion.

ORGANISM(S): Homo sapiens

SUBMITTER: Marco Fabiani

PROVIDER: E-MTAB-12413 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

ACCESS DATA

Json Xml

Similar Datasets

Transcription profiling of Phytobacterium profundum SS9 strain cells grown at two different pressure conditions 0.1 MPa and at 28 MPa

Project description:P. profundum SS9 strain cells were grown at two different pressure conditions 0.1 MPa and at 28 MPa. RNA extracted from the two different cultures was labelled with Cy5 and Cy3 and competitively hybridized on the same slide.

2005-07-28 | E-MEXP-210 | biostudies-arrayexpress

Transcription profiling of year-long 10 degree C reduction in water temperature on global gene expression in tail skeletal muscle from adult, male zebrafish

Project description:The effect of a year-long 10 reduction in water temperature on global gene expression in tail skeletal muscle from adult, male zebrafish was determined using a long oligonucleotide probe set (16,399 65mers from Compugen) spotted onto glass slides. Outbred male zebrafish were obtained from a commercial supplier (Liles Tropical Fish, FL) at 6 months of age. Fish were maintained at 28 until 10 months of age. (see Gerhard et al., Exp Gerontol 37,1055-68, 2002) For temperature reduction, water temperature was decreased by 2.5 per week for 4 weeks. Fish were maintained until 22 months of age. Fish were fed fish flakes (Wardely Corp. Secaucus, NJ) twice per day. Each feeding was a discrete event in which a small measured amount of granular food was sprinkled on the water surface. A second small aliquot was offered if the first has been eaten within a few minutes. The feeding stopped when food from the previous aliquot has not been eaten and feeding behavior has ceased. By providing a consecutive series of small aliquots until food is no longer accepted, every member of the tank has an opportunity to eat until satiety, yet the amount of uneaten food is minimized. At 22 months of age, fish were euthanized by decapitation. Total RNA was harvested from a pool of tail muscle samples from 5 fish. Two independent pools of 5 fish per pool were collected from fish maintained at 18 and 28. Flip-dye hybridizations were performed on each pool for a total of 4 hybridizations in this study. Experiments DAR011d0001 and DAR011d0002 are flip-dye hybridizations from Pool 1. Experiments DAR011d0003 and DAR011d004 are flip-dye hybridizations from Pool 2.

2005-01-01 | E-TIGR-19 | biostudies-arrayexpress

Batch wt vs hyper +_- pABA Normal int_Filtered fg-bg2

Project description:Transcriptional analysis upon the overexpression of the folate gene cluster on a high copy plasmid when compared to an empty vector in the lactic acid bacterium L. plantarum. The transcriptional response was determined for both strains in the presence and absence of pABA thereby using the hybridisation sceme as described in the data processing section. Keywords: response to folate gene cluster overexpression and pABA treatment The batch experiment with and without pABA scheme consisted of a loop design with 21 microarrays with the following samples hybridized on one array and labeled with Cy3 and Cy5, respectively: C1+P and F1+P, F1+P and C2+P, C2+P and F3+P, F3+P and C3+P, C3+P and F2+P, F2+P and C1+P, C1+P and C2+P, F2+P and F3+P, C1-P and F1-P, F1-P and C2-P, C2-P and F3-P, F3-P and C3-P, C3-P and F2-P, F2-P and C1-P, C1-P and C2-P, F2-P and F3-P, C3-P and F1+P, F2+P and C1-P, C2+P and F3-P, F1-P and C3+P, and F2+P and F1-P. Here, C1+P, C2+P, C3+P, F1+P, F2+P, and F3+P represent biological triplicates of the L. plantarum harboring pNZ7021 and pNZ7026, respectively, when grown in batch in the presence of pABA. The C1-P, C2-P, C3-P, F1-P, F2-P, and F3-P, represents the L. plantarum harboring pNZ7021 and pNZ7026, respectively, when grown in batch in the absence of pABA.

2008-05-31 | E-GEOD-8956 | biostudies-arrayexpress

Transcription profiling of adult male whole MutaMouse lung with its immortalized 100% confluent epithelial lung cell line counterpart UHN 15K Array

Project description:Biological comparison of gene expression profiles of a whole mouse lung from a transgenic mouse line with its immortalized cell line counterpart.

2004-07-01 | E-MEXP-107 | biostudies-arrayexpress

CP001: Modulation of glutamine metabolism by the PI3K-PKB/c-akt-FOXO network regulates autophagy

Project description:The PI3K-PKB/c-akt-FOXO signalling network provides a major intracellular hub for regulation of cell proliferation, survival and stress resistance1. Here we report a novel function for FOXO transcription factors in regulating autophagy through modulation of intracellular glutamine levels. To identify novel transcriptional targets of this module we performed an unbiased microarray analysis after conditional activation of the key components PI3K, PKB, FOXO3 and FOXO4. Utilising this global pathway approach we identified glutamine synthetase (GS) as being transcriptionally regulated by PI3K-PKB-FOXO signalling. FOXO-mediated increase in GS expression specifically induced glutamine production independently of cell type, and this was evolutionary conserved. FOXO activation resulted in mTOR inhibition by preventing the translocation of mTOR to lysosomal membranes, which was dependent on GS activity. Increased GS activity resulted in increased autophagosome turnover as measured by LC3 lipidation, p62 degradation, and confocal imaging of LC3, p62, WIPI-1, ULK2 and Atg12. Inhibition of FOXO3-mediated autophagy resulted in increased apoptosis, suggesting that the induction of autophagy by FOXO3-mediated upregulation of GS is important for cellular survival. These findings reveal a novel signalling network that can directly modulate autophagy through regulation of glutamine metabolism. conditional activation of pkb and pi3k were followed in a timeseries. Each timepoint consists of 4 independent replicates, labeled with either cy3 or cy5 and put on array against time0.

2012-07-21 | E-GEOD-35701 | biostudies-arrayexpress

Transcription profiling of staged Zebra fish embryos at 2 hour intervals over a 24 h period over period of segmentation, when the nervous system is forming

Project description:We isolated total RNA from staged embryos at 2 hour intervals over a 24 h period. Total RNA from 8 h embryos was used as a reference for the time course. This expression study used a >16,000 oligonucleotide (65-mers) probe set from Compugen to examine changes in gene expression in wild-type Danio rerio during development, emphasizing the period of segmentation, when the nervous system is forming. Embryos were provided by Scientific Hatcheries.

2005-01-01 | E-TIGR-17 | biostudies-arrayexpress

Transcription profiling of 4-week old Arabidopsis plants grown in soil flooded to the soil surface (root flooding) or completely submerged under 6 cm of water (submergence)

Project description:4-week old Arabidopsis plants grown in soil were flooded to the soil surface (root flooding) or completely submerged under 6 cm of water (submergence). Samples are collected at the time specified.

2013-01-30 | E-TIGR-120 | biostudies-arrayexpress

Transcription profiling of Arabidopsis to study the effects of hypoxia and differential gene expression on two different genotypes wild type and the transgenic SAG12:ipt (T5)) through the use of a controlled air feed

Project description:The aim was to study the effects of hypoxia and differential gene expression on two different genotypes (wildtype (WT) and the transgenic SAG12:ipt (T5)) through the use of a controlled air feed.

2005-01-01 | E-TIGR-20 | biostudies-arrayexpress

2005-01-01 | E-TIGR-22 | biostudies-arrayexpress

Transcription profiling of wild type and transgenic SAG12:ipt Arabidopsis plants following hypoxia for different lengths of time

2005-01-01 | E-TIGR-21 | biostudies-arrayexpress