GEO DataSets

(Submitter supplied) Background: Chromosomal 16p11.2 deletions and duplications are genomic disorders which are characterized by neurobehavioral abnormalities, obesity, congenital abnormalities and so on. However, the prenatal phenotypes of 16p11.2 copy number variations (CNVs) are still not well described till now. This study aimed to provide an elaborate summary of intrauterine phenotypic features for such genomic disorders. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

Platform:

GPL18637

20 Samples

Download data: CEL

(Submitter supplied) With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication. The study aimed to explore the molecular etiology of fetal TE and provide more information for the clinical screening and genetic counseling of TE by CMA.This retrospectively study included 131 fetuses with TE identified by ultrasonography. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL18637

131 Samples

Download data: CEL, CYCHP

(Submitter supplied) Routine karyotyping combined with CMA testing should be provided for fetuses with omphalocele. WES is an option if karyotype and CMA tests are normal. In addition, if conventional karyotype, CMA detection and WES detection are normal, then further molecular biology methods can be used to rule out disease phenotypes like BWS syndrome. We analyzed the ultrasonographic features, genetic characteristics, and maternal and fetal outcomes of fetuses with omphalocele and provide a reference for perinatal management of such cases.

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

Platform:

GPL18637

5 Samples

Download data: CEL, CYCHP

(Submitter supplied) Objective: Chromosomal 1q21.1 deletions and duplications are genomic disorders which are usually diagnosed postnatally. However, the genotype-phenotype correlations of 1q21.1 copy number variants (CNVs) during prenatal period are still not clear. This study aimed to provide a systematical summary of prenatal phenotypes for such genomic disorders. Methods: Twenty-six prenatal amniotic fluid samples diagnosed with 1q21.1 microdeletions/microduplications were obtained from pregnant women who opted for invasive prenatal testing. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

Platform:

GPL18637

26 Samples

Download data: CEL, CYCHP

(Submitter supplied) Infantile neuroaxonal dystrophy (INAD) is an ultra-rare early-onset autosomal recessive neurodegenerative disorder due to PLA2G6 variants. Copy number analysis of SNP arrays was performed on one INAD patient sample.

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

Platform:

GPL18637

1 Sample

Download data: CEL, CYCHP

(Submitter supplied) Chromosomal abnormalities are important causes of miscarriages. To delinate the chromosomal abnormalities in miscarriages, 564 miscarriages were collected and analyzed using single nucleotide polymorphism (SNP) array. 336 (59.6%) miscarriages were with abnormal copy number variations (CNVs), including 325 (57.6%) miscarriages with pathogenic CNVs and 11 (2%) miscarriages with variations of unknown significance (VOUS). more...

Organism:

Homo sapiens

Type:

Methylation profiling by array

Platform:

GPL18637

564 Samples

Download data: CEL, CYCHP

(Submitter supplied) Objective: The study compared the incidence of aneuploidy and copy number variations (CNVs) in fetuses with increased nuchal translucency (NT) to those with clear indications for non-invasive prenatal screening (NIPS), aiming to evaluate the risk of routine aneuploidy (RA) and pathogenic submicroscopic abnormalities and the potential use of NIPS for fetuses with increased NT. Methods: The study retrospectively analyzed 716 pregnant women with isolated increased NT in Group IiNT and 2960 pregnant women in the control group. more...

Organism:

Homo sapiens

Type:

SNP genotyping by SNP array; Genome variation profiling by SNP array

Platform:

GPL18637

129 Samples

Download data: CEL, CYCHP

(Submitter supplied) Human induced pluripotent stem cells (iPSCs) provide a virtually inexhaustible source of starting material for cell therapies, such as next generation mesenchymal stem/stromal cells (i.e., iPSC-MSCs), offering an increased clinical efficacy in a variety of diseases. In particular, iPSC-derived products are relevant for treating pathologies in pediatric patients, due to the limited amount of biological material that is easily accessible in infants, toddlers, or young children. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

Platform:

GPL18637

4 Samples

Download data: CEL, CYCHP

(Submitter supplied) The phenotypes of Xp22.33 or Yp11.32 microdeletions containing short-stature homeobox (SHOX) gene have been extensively described in adults and children, however, few have been reported in prenatal fetuses. We analyzed the prenatal ultrasound phenotype and pregnancy outcomes of fetuses with Xp22.33 or Yp11.32 microdeletion containing SHOX gene to improve the understanding, diagnosis, and monitoring of the disease in the fetal period.

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

Platform:

GPL18637

5 Samples

Download data: CEL, CYCHP

(Submitter supplied) We retrospectively reviewed 488 fetuses who diagnosed with FGR and without structural malformation during a 10-year period. A total of 19 (3.9%) cases of chromosomal anomalies were detected, including 11 cases of numerical abnormalities, 5 of structural abnormalities, and 3 of mosaicism. We classified the cohort into cases diagnosed at ≤24, 25-28, 29-32, and > 32 weeks of gestation according to the onset gestations; isolated FGR, FGR with soft markers, and FGR with nonstructural anomalies according to different ultrasound findings; high and low-risk maternal serum screening (MSS) groups based on the MSS results. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array; SNP genotyping by SNP array

Platform:

GPL18637

31 Samples

Download data: CEL, CYCHP

(Submitter supplied) The array46 750k study was performed in the DNA sample for mosaicism aneuploidy detection and loss or absence of heterozygosity. Samples include patients with phenotype associated with pigmentary mosaicism The array46 750k study was performed in the DNA sample to discard uniparental disomy (UPD)

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

Platforms:

GPL18637 GPL32641

4 Samples

Download data: CEL, CYCHP

(Submitter supplied) Sex chromosomal abnormalities areare associated with multiple defects. In this study, we retrospectively analyzed the single nucleotide polymorphism (SNP) arrays of 186 early embryos with sex chromosomal abnormalities. using single nucleotide polymorphism (SNP) array. Among them, 52 cases of Turner syndrome, 21 cases of triple X syndrome, 35 cases of Klinefelter syndrome and 14 cases of XYY syndrome were detected. more...

Organism:

Homo sapiens

Type:

SNP genotyping by SNP array; Genome variation profiling by SNP array

Platform:

GPL18637

185 Samples

Download data: CEL, CYCHP

(Submitter supplied) Although pulmonary stenosis (PS) is relatively common, the genetic etiology of congenital PS in fetuses is poorly studied. We used karyotype analysis and chromosomal microarray analysis (CMA) to investigate the genetic aberrations associated with PS in fetuses.

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

Platform:

GPL18637

7 Samples

Download data: CEL, CYCHP

(Submitter supplied) Fetal gastrointestinal tract obstructions (GITO) is the most frequently encountered gastrointestinal defects in prenatal. This study aimed to investigate the genetic disorders and pregnancy outcomes of fetal GITO. We reviewed data from 70 pregnancies who were referred for invasive prenatal testing due to fetal GITO. According to the levels of obstruction, they were classified into esophageal atresia/stenosis, duodenal atresia/stenosis, jejunal or ileal atresia/stenosis, and anal atresia. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

Platform:

GPL18637

32 Samples

Download data: CEL, CYCHP

(Submitter supplied) Hematopoietic malignancies are frequently characterized by karyotypic abnormalities. The development of targeted drugs has been pioneered with compounds against gene products of fusion genes caused by chromosomal translocations. While polysomies are equally frequent as translocations, for many of them we are lacking therapeutic approaches aimed at synthetic lethality. Here, we report two new cell lines, named MBU-7 and MBU-8, that differ in complete trisomies of chromosome 18, a partial trisomy of chromosome 7 and a tetrasomy of the p-arm of chromosome 8, but otherwise share the same mutational pattern and complex karyotype. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by array; Genome variation profiling by SNP array

Platform:

GPL18637

2 Samples

Download data: CEL, CYCHP

(Submitter supplied) CytoScan 750K array was performed for the detection of CNV associated with the patient's phenotype CytoScan 750K array was performed according to the manufacturer's directions on DNA extracted from peripheral blood sample.

Organism:

Homo sapiens

Type:

Genome variation profiling by array; Genome variation profiling by SNP array

Platform:

GPL18637

1 Sample

Download data: CEL, CYCHP

(Submitter supplied) Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. There have been extensive studies focusing on the identification of the Down Syndrome Critical Region (DSCR). Our case aims in providing evidence that duplication of 21q21.1-q21.2 is not included in the DSCR and that it has no clinical consequences on the phenotype. Due to missing the appropriate gestational age for serological screening, Non-Invasive Prenatal Testing (NIPT) analysis was performed for a pregnant woman with normal prenatal examinations at 22 weeks of gestation. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

Platform:

GPL18637

2 Samples

Download data: CEL, CYCHP

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

Platforms:

GPL18602 GPL18637 GPL21558

58 Samples

Download data: CEL, CYCHP, OSCHP

(Submitter supplied) Breast cancer in Spain remains the first leading cause of cancer-related death in women from all age, and in younger women breast tumors often exhibit more aggressive phenotypes, worse prognosis and more frequently germline mutation in BRCA1/2 genes. Chromothripsis, a massive genome rearrangement, has been recently described but its etiology and effect on cancer cells remain unknown. Chromothripsis in breast cancer has been poorly studied and prevalence rates vary between 11-61%. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

Platform:

GPL18637

26 Samples

Download data: CEL, CYCHP, TXT

(Submitter supplied) Potocki-Shaffer syndrome (PSS) is a rare contiguous gene deletion syndrome marked by haploinsufficiency of genes in chromosomal region 11p11.2p12. Approximately 50 cases of PSS have been reported; however, a syndrome with a PSS-like clinical phenotype caused by 11p11.12p12 duplication has not yet been reported. We first report the 11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array

Platform:

GPL18637

2 Samples

Download data: CEL, CYCHP