Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in NIPBL accounting for the majority (>60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than NIPBL tend to result in a less severe phenotype. Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or "DTRs"). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype-phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population.

Characteristics of groundwater microbial communities' structure under the impact of elevated nitrate concentrations in north China plain.

In groundwater environments, the interaction between microbial communities and the hydrogeochemical parameters have been investigated extensively in the past years. However, little is known whether the maximum contamination level (MCL) is a threshold value that dictates the microbial composition. In this study, we analyzed 10 groundwater samples for their nitrate, nitrite, COD and sulfate concentrations, and characterized their microbial compositions using 16 S rRNA based high-throughput sequencing methods. All the 10 samples had oxygen demands higher than the corresponding MCL of China (10 mg L-1); moreover, 4 out of 10 samples also had nitrate concentrations higher than the corresponding MCL, which indicated that the groundwater quality was negatively impacted by anthropogenic activities. Comparing the microbial composition of groundwater that had higher-than-MCL nitrate concentrations to those that had lower-than-MCL nitrate concentrations, no significant differences were detected in communities' richness and diversity. However, the non-metric multi-dimensional analysis suggested that the 4 groundwater samples whose nitrate concentration exceed MCL are distinctly different from those of the rest 6 samples, indicating that MCL does have a significant impact on microbial structures. Pearson's correlation analysis suggested that none of the four analyzed hydrochemical parameters had significant impact on microbial communities' richness and diversity; however, at the genus level, the correlation results suggested that JG30-KM-CM45, Sphingomonas and Rhodococcus are closely correlated with nitrate concentration. The findings of this study deepened our understanding with respect to the relationships between the environmental quality indices and the microbial compositions of groundwater.

Lnc-CPLC promotes the progression of colorectal cancer via regulating ZBTB34 by competitively binding miR-4319.

Long noncoding RNAs (lncRNAs) have been considered as regulatory molecules that play crucial roles in diverse biological processes, including the regulation of tumor progression. However, in colorectal cancer (CRC), due to the complex regulatory relationships involved in lncRNAs, the details of the specific mechanism still need to be elucidated. To discover the key regulatory role of lncRNA in CRC, we used bioinformatics analysis methods for preliminary screening. Through the combination of in vitro and in vivo verification, we further comprehensively analyzed the specific regulation of the key gene and the related key lncRNA in CRC. We found that ZBTB34 and lnc-CPLC (CRC progression-associated lncRNA) had a strong correlation, which plays a key role in the regulation of CRC. Furthermore, by exerting the "sponge" function, lnc-CPLC could bind to miR4319 and release its binding to the 3'UTR of ZBTB34 mRNA. Our results reveal the mechanism of the lnc-CPLC/miR-4319/ZBTB34 signal axis in CRC and provide evidence for elucidating the complex molecular mechanisms in tumors.

Transcriptome profiling in rice reveals a positive role for OsNCED3 in defense against the brown planthopper, Nilaparvata lugens.

9-cis-epoxycarotenoid dioxygenase (NCED) is the rate-limiting enzyme for abscisic acid (ABA) biosynthesis in higher plants. In rice, OsNCED3 was shown to promote ABA synthesis, and improve abiotic stress tolerance, but the function of OsNCED3 in regulating rice defense against the brown planthopper (Nilaparvata lugens; BPH) has been unclear. In this study, several parameters were used to assess rice resistance to BPH, including the average injury level, the functional plant loss index, and electrical penetration graph analysis. Rice lines overexpressing OsNCED3 (OE) were more resistant to BPH than the wild-type cv. Zhonghua11 (WT). Transcriptome analysis was performed on WT, OE, and a RNAi transgenic line silenced for OsNCED3; these three lines were either infested or non-infested with BPH. Seventeen RNA libraries were compared, and most of the differentially expressed genes (DEGs) were upregulated. The number of DEGs in the RNAi line infested with BPH was significantly higher than the OE, and WT lines, and many DEGs were related to the stress response, and biosynthesis of jasmonic acid. This study shows that overexpression of OsNCED3 in rice improves resistance to BPH, and has potential merit in rice breeding programs.

Transcriptome Analysis Reveals Crosstalk between the Abscisic Acid and Jasmonic Acid Signaling Pathways in Rice-Mediated Defense against Nilaparvata lugens.

The brown planthopper (BPH) impacts both rice yield and quality. The exogenous application of abscisic acid (ABA) and jasmonic acid (JA) has been previously shown to induce rice resistance to BPH; however, the regulation of rice-mediated defense by these plant growth regulators is unclear. We applied exogenous JA and ABA to rice and analyzed molecular responses to BPH infestation. Nine RNA libraries were sequenced, and 6218 differentially expressed genes (DEGs) were generated and annotated. After ABA + BPH and JA + BPH treatments, 3491 and 2727 DEGs, respectively, were identified when compared with the control (BPH alone). GO enrichment and KEGG pathway analysis showed that the expression of several JA pathway genes (OsAOS2, encoding allene oxide synthase; OsOPR, 12-oxo-phytodienoic acid reductase; and OsACOX, acy1-CoA oxidase) were significantly up-regulated after ABA + BPH treatment. Furthermore, exogenous JA increased the expression of genes involved in ABA synthesis. Meanwhile, the expression levels of genes encoding WRKY transcription factors, myelocytomatosis protein 2 (MYC2) and basic leucine zippers (bZIPs) were up-regulated significantly, indicating that ABA and JA might function together to increase the expression of transcription factors during the rice defense response. The DEGs identified in this study provide vital insights into the synergism between ABA and JA and further contribute to the mechanistic basis of rice resistance to BPH.

Preparation of Magnetic MIL-68(Ga) Metal-Organic Framework and Heavy Metal Ion Removal Application.

A magnetic metal-organic framework nanocomposite (magnetic MIL-68(Ga)) was synthesized through a "one pot" reaction and used for heavy metal ion removal. The morphology and elemental properties of the nanocomposite were characterized by scanning electron microscopy (SEM), Fourier transform infrared (FT-IR), X-ray powder diffraction (XRD), as well as zeta potential. Moreover, the factors affecting the adsorption capacity of the nanocomposite, including time, pH, metal ion type and concentration, were studied. It was found that the adsorption capacity of magnetic MIL-68(Ga) for Pb2+ and Cu2+ was 220 and 130 mg/g, respectively. Notably, the magnetic adsorbents could be separated easily using an external magnetic field, regenerated by ethylenediaminetetraacetic acid disodium salt (EDTA-Na2) and reused three times, in favor of practical application. This study provides a reference for the rapid separation and purification of heavy metal ions from wastewater.

Systematic prediction of key genes for ovarian cancer by co-expression network analysis.

Ovarian cancer (OC) is the most lethal gynaecological malignancy, characterized by high recurrence and mortality. However, the mechanisms of its pathogenesis remain largely unknown, hindering the investigation of the functional roles. This study sought to identify key hub genes that may serve as biomarkers correlated with prognosis. Here, we conduct an integrated analysis using the weighted gene co-expression network analysis (WGCNA) to explore the clinically significant gene sets and identify candidate hub genes associated with OC clinical phenotypes. The gene expression profiles were obtained from the MERAV database. Validations of candidate hub genes were performed with RNASeqV2 data and the corresponding clinical information available from The Cancer Genome Atlas (TCGA) database. In addition, we examined the candidate genes in ovarian cancer cells. Totally, 19 modules were identified and 26 hub genes were extracted from the most significant module (R2  = .53) in clinical stages. Through the validation of TCGA data, we found that five hub genes (COL1A1, DCN, LUM, POSTN and THBS2) predicted poor prognosis. Receiver operating characteristic (ROC) curves demonstrated that these five genes exhibited diagnostic efficiency for early-stage and advanced-stage cancer. The protein expression of these five genes in tumour tissues was significantly higher than that in normal tissues. Besides, the expression of COL1A1 was associated with the TAX resistance of tumours and could be affected by the autophagy level in OC cell line. In conclusion, our findings identified five genes could serve as biomarkers related to the prognosis of OC and may be helpful for revealing pathogenic mechanism and developing further research.

MYC rearrangement and MYC/BCL2 double expression but not cell-of-origin predict prognosis in R-CHOP treated diffuse large B-cell lymphoma.

OBJECTIVE: Diffuse large B-cell lymphoma (DLBCL) can be classified as germinal center B cell-like (GCB) or activated B cell-like (ABC)/non-GCB based on cell-of-origin (COO) classification. This study evaluated the prognostic significance of COO classification in 250 patients diagnosed with de novo DLBCL who received R-CHOP therapy. We also assessed whether the genomic status of MYC, BCL2, or MYC/BCL2 double expression (DE) could provide additional prognostic information for DLBCL patients. METHODS: The clinicopathologic features and outcome of patients with GCB DLBCL were compared to patients with non-GCB DLBCL using Fisher's exact test. The prognostic significance of COO, MYC-R, and MYC/BCL2 DE were studied using multivariate Cox proportional hazard analysis. RESULTS: There were 162 men and 88 women with a median age of 62 years (range, 18-86). Forty-five of 250 (18%) cases harbored MYC rearrangement (R). The frequency of MYC-R was much higher in GCB than in non-GCB tumors (40/165, 24% vs 5/85, 6%) (P = .0001). MYC/BCL2 DE was observed in 53 of 125 (42%) cases. COO classification failed to predict overall survival (OS) in DLBCL patients, either those patients with MYC-R were included (P = .10) or not (P = .27). In contrast, MYC-R and MYC/BCL2 DE significantly correlated with inferior OS (P = .0001 and P = .001, respectively). In multivariate analysis, MYC-R and MYC/BCL2 DE were still independent prognostic factors in DLBCL patients. CONCLUSIONS: MYC-R and MYC/BCL2 DE are independent prognostic factors for DLBCL patients treated with R-CHOP. In this cohort, COO classification failed to stratify patient outcome.

Effect of 5-fluorouracil on excision repair cross-complementing 1 expression and consequent cytotoxicity regulation in human gastric cancer cells.

Gastric cancer is the third leading cause of cancer mortality all over the world. The combination therapy of surgery with chemotherapy, that is, 5-fluorouracil (5-FU) and platinum-containing anticancer drugs, is becoming a current clinical strategy for patients with gastric cancer because of the lower curative rate and higher cancer recurrence rate of patients treated with only surgery. However, the development of drug resistance in cancer cells is still the most challenge in clinical chemotherapy. Excision repair cross-complementing 1 (ERCC1), an essential member of nucleotide excision repair system, recently has been suggested to be a predictive biomarker of treatment evaluation and might affect the outcomes of chemotherapy. Thus, this study was aimed to investigate whether ERCC1 expression could be regulated, and its role in gastric cancer cells treated with 5-FU and the underlying mechanism. Human AGS gastric cancer cells were used in this study. It was shown that ERCC1 expression could be upregulated in AGS cells treated with 5-FU and this upregulation could subsequently attenuate the cytotoxicity of 5-FU in AGS cells. Moreover, 5-FU-upregulated ERCC1 expression was regulated by extracellular signal-regulated kinase (ERK) 1/2 and p38 signaling through activating the transcription factor c-jun/activator protein (AP)-1. These results indicated the role of ERCC1 in the development of drug resistance to 5-FU in AGS cells. The mechanism elucidation concerning the ERK1/2 and p38 kinases and transcription factor c-jun/AP-1 might contribute another idea to the development of chemotherapy strategy for the gastric cancers in the future.

Simultaneous Presentation of Wilms Tumor and Immature Ovarian Teratoma in Beckwith-Wiedemann Syndrome.

The Beckwith-Wiedemann syndrome is a cancer predisposition syndrome characterized by a predilection to embryonal tumor growth, especially Wilms tumor, adrenocortical carcinomas, and hepatoblastomas. Genetic analysis of patients has revealed a link to the imprinted domain of the 11p15.5 chromosome and methylation status of the H19 locus and Igf-2. These genes have also been studied in other cancers, including ovarian teratomas. Our case is a patient with a simultaneous presentation of a Wilms tumor and immature ovarian teratoma and subsequently diagnosed with Beckwith-Wiedemann syndrome, which has not been previously described.

Effect of AICAR and 5-Fluorouracil on X-ray Repair, Cross-Complementing Group 1 Expression, and Consequent Cytotoxicity Regulation in Human HCT-116 Colorectal Cancer Cells.

Colorectal cancer (CRC) is one of the leading causes of cancer mortality and 5-Fluorouracil (5-FU) is the most common chemotherapy agent of CRC. A high level of X-ray repair cross complementing group 1 (XRCC1) in cancer cells has been associated with the drug resistance occurrence. Moreover, the activation of adenosine monophosphate (AMP)-activated protein kinase (AMPK) has been indicated to regulate the cancer cell survival. Thus, this study was aimed to examine whether XRCC1 plays a role in the 5-FU/AMPK agonist (AICAR)-induced cytotoxic effect on CRC and the underlying mechanisms. Human HCT-116 colorectal cells were used in this study. It was shown that 5-FU increases the XRCC1 expression in HCT-116 cells and then affects the cell survival through CXCR4/Akt signaling. Moreover, 5-FU combined with AICAR further result in more survival inhibition in HCT-116 cells, accompanied with reduced CXCR4/Akt signaling activity and XRCC1 expression. These results elucidate the role and mechanism of XRCC1 in the drug resistance of HCT-116 cells to 5-FU. We also demonstrate the synergistic inhibitory effect of AMPK on 5-FU-inhibited HCT-116 cell survival under the 5-FU and AICAR co-treatment. Thus, our findings may provide a new notion for the future drug regimen incorporating 5-FU and AMPK agonists for the CRC treatment.

Malignant glioma with primitive neuroectodermal tumor-like component (MG-PNET): novel microarray findings in a pediatric patient.

Central nervous system (CNS) tumors exhibiting dual features of malignant glioma (MG) and primitive neuroectodermal tumor (PNET) are rare and diagnostically challenging. Previous studies have shown that MG-PNET carry MYCN or MYC gene amplifications within the PNET component concomitant with glioma-associated alterations, most commonly 10q loss, in both components [9]. Here we confirm and extend the profile of molecular genetic findings in a MG-PNET involving the left frontal lobe of a 12-year-old male. Histologically, the PNET-like component showed morphological features akin to anaplastic medulloblastoma highlighted by widespread immunoreactivity for ßIII-tubulin (TUBB3) and nonphosphorylated neurofilament protein, and to a lesser degree, Neu-N, synaptophysin, and CD99, whereas the gliomatous component was demarcated by glial fibrillary acidic protein (GFAP) labeling. Immunohistochemical labeling with an anti-H3K27M mutant-specific antibody was not detectable in either gliomatous and/or PNET-like areas. Interphase fluorescent in situ hybridization (FISH) study on touch preparations from frozen tumor and formaldehyde-fixed, paraffin-embedded histological sections showed amplification of MYC in both PNET-like and gliomatous areas. Single nucleotide polymorphism (SNP) microarray analysis revealed that the tumor carried gains of multiple chromosomes and chromosome arms, losses of multiple chromosomes and chromosome arms, gains of multiple chromosomal segments (not limited to amplification of chromosomal segments 4q12 including PDGFRA, and 8q24.21 including MYC), and a hitherto unreported chromothripsis-like abnormality on chromosome 8. No mutations were identified for IDH1, IDH2, or BRAF genes by sequence analysis. The molecular genetic findings support the presence of a CNS-PNET as an integral part of the tumor coupled with overlapping genetic alterations found in both adult and pediatric high-grade gliomas/glioblastoma. Collectively, microarray data point to a complex underpinning of genetic alterations associated with the MG-PNET tumor phenotype.
.

Unusual genetic aberrations including a deletion of KLF6 tumor suppressor gene revealed by integrated cytogenetic approaches in a pediatric ewing sarcoma.

Ewing sarcoma is the third most common sarcoma in children and young adults. Its characteristic chromosomal rearrangement results in a chimerical EWSR1-ETS transcription factor. Secondary genetic alterations are very common. Membranous expression of CD99 is seen in almost all tumors. We report 2 unusual cytogenetic findings in a pediatric Ewing sarcoma, an insertion of the MIC2 gene encoding CD99 from Xp to 10p and a submicroscopic deletion of the well-known tumor supressor gene KLF6. The latter has not been described previously in pediatric neoplasms. Molecular pathways in tumorigenesis and genetic complexity in cancer are discussed.

Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: case report and review of the literature.

Trisomy 22 is the third most common autosomal trisomy occurring in about 0.4% of all clinically recognized pregnancies. Complete non-mosaic trisomy 22 is extremely rare in live births. Most affected children die before one year of age. To date, only 29 liveborn cases have been reported and none has carried an additional genetic lesion. In this report, we describe the clinical presentation, cytogenetic, and cytogenomic findings in a liveborn female with complete non-mosaic trisomy 22 as well as a paternally inherited, balanced reciprocal chromosomal rearrangement t(4;6)(q33;q23.3). The proband manifested features commonly seen in individuals with non-mosaic trisomy 22 such as intrauterine growth retardation (IUGR), single umbilical artery, cranial abnormalities, short neck, cleft lip and palate, dysmorphic ears, hypoplastic nipples, digital malformation, congenital heart defects, dysplastic kidneys, and genital anomalies. In addition, she had lobar holoprosencephaly, aqueductal stenosis, and limb and eye problems that have not been associated with complete trisomy 22 in previous reports. She died at 35 days of age of complex heart disease and renal failure. We are hereby expanding the cytogenetic and clinical spectrum of this rare chromosome disorder. Clinical features of liveborn children with non-mosaic trisomy 22 are reviewed and compared to those in our proband. The impact of genomic content in relation to the survival of trisomies in humans is also discussed.

Effects of exogenous plant growth regulator abscisic acid-induced resistance in rice on the expression of vitellogenin mRNA in Nilaparvata lugens (Hemiptera: Delphacidae) adult females.

Recent study showed that exogenous abscisic acid (ABA) acts as a regulator of plant resistance. This study investigated average injury scale and callose contents of rice, and vitellogenin (Nlvg) mRNA expression in Nilaparvata lugens (Stål) (Hemiptera: Delphacidae) adult females after third instar nymphs fed on exogenous ABA-treated susceptible [Taichung Native one (TN1)] and moderately resistant (IR42) rice cultivars. The results showed that exogenous ABA significantly decreased average injury scale of rice and Nlvg mRNA expression in N. lugens adults compared with the control (without ABA spraying). Nlvg mRNA expression in N. lugens adults decreased significantly after third instar nymphs fed on ABA-treated (5, 20, and 40 mg/liter) TN1 for 1 and 2 d, and for IR42, after fed on ABA-treated (20 and 40 mg/liter) rice plants for 1 d and after fed on ABA-treated (5, 20, and 40 mg/liter) rice for 2 d decreased significantly. The callose contents showed no significant change for TN1, while for IR42, significantly increased in roots and sheathes after N. lugens infestation under ABA treatments (20 and 40 mg/liter) compared with the control. The decrease of Nlvg mRNA expression may be partially attributed to the increase of callose content of plants. The results provide a profile for concerning the effects of ABA-induced rice plants' defenses on phloem-feeding insects.

Impacts of aquatic macrophytes configuration modes on water quality.

Constructed wetland technology is regarded as an important ecological restoration technology and used widely in sewage disposal. In order to give them a wider scope of application and to improve their performance in water restoration, the current experiment was designed. Four aquatic macrophytes (dwarf cattail (TM), yellow-flowered iris (WI), water shallot (ST) and watermifoil (MS)) were picked and planted in artificial floating islands (AFIs) in different configurations (TM + WI, ST + MS and TM + WI + MS) and two patterns, radiation pattern (RP) and annular pattern (AP), for a 60-day experiment. Then, water quality and growth were monitored every 10 days. The results indicate that the different configurations performed diversely on waste water purification. First, a composite plant configuration removed more pollutant than a single one with the same total increment of biomass. Second, the plant configuration of MS + ST was most effective in total nitrogen (TN), total phosphorus (TP) or PO4(3-) removal, and TM + IW + MS was good at chemical oxygen demand (COD) and NO3(-) removal. However, different patterns comprised from the same species had a certain effect on absorption of pollutants. Generally speaking, plant configurations with a RP were better than an AP in purification. Accordingly, these provided the methods for the pollution wetland restoration.

A key ABA biosynthetic gene OsNCED3 is a positive regulator in resistance to Nilaparvata lugens in Oryza sativa.

The gene encoding 9-cis-epoxycarotenoid dioxygenase 3 (NCED3) functions in abscisic acid (ABA) biosynthesis, plant growth and development, and tolerance to adverse temperatures, drought and saline conditions. In this study, three rice lines were used to explore the function of OsNCED3, these included an OsNCED3-overexpressing line (OsNCED3-OE), a knockdown line (osnced3-RNAi) and wild-type rice (WT). These rice lines were infested with the brown plant hopper (BPH; Nilaparvata lugens) and examined for physiological and biochemical changes, hormone content, and defense gene expression. The results showed that OsNCED3 activated rice defense mechanisms, which led to an increased defense enzyme activity of superoxide dismutase, peroxidase, and polyphenol oxidase. The overexpression of OsNCED3 decreased the number of planthoppers and reduced oviposition and BPH hatching rates. Furthermore, the overexpression of OsNCED3 increased the concentrations of jasmonic acid, jasmonyl-isoleucine and ABA relative to WT rice and the osnced3-RNAi line. These results indicate that OsNCED3 improved the stress tolerance in rice and support a role for both jasmonates and ABA as defense compounds in the rice-BPH interaction.

Exogenous ABA promotes resistance to Sitobion avenae (Fabricius) in rice seedlings.

BACKGROUND: Over the course of evolution, plants have developed various sophisticated defense mechanisms to resist pests and diseases. The phytohormone abscisic acid (ABA) has an important role in the growth and development of plants and confers tolerance to selected abiotic stressors, such as drought. Previous studies have shown that ABA promotes the deposit of callose in response to piercing/sucking insect pests. The English grain aphid, Sitobion avenae Fabricius, causes huge losses in rice and is especially harmful to rice seedlings. RESULTS: Exogenous ABA promoted growth and reduced the feeding behavior of S. avenae nymphs in rice. Our results suggested that enhanced trichome density and increased expression of related genes may be associated with rice resistance to aphids. An analysis of volatiles revealed the production of seven compounds associated with pest resistance. CONCLUSION: These results indicate that ABA reduces aphid feeding in rice. Our findings provide a basis for understanding ABA-mediated defense responses in rice and provide insights on more environmentally-friendly approaches to control. © 2024 Society of Chemical Industry.

Clonal trisomy 4 cells detected in the ossifying renal tumor of infancy: study of 3 cases.

The ossifying renal tumor of infancy is a rare neoplasm diagnosed in the first 2 years of life, predominantly in boys. The neoplasm is primarily characterized by the presence of a large ossifying component. Its most common mode of presentation is hematuria, and it has a uniformly benign behavior. The karyotypic makeup of the process has not been reported. Thus, a study was undertaken and it allowed demonstration of clonal trisomy 4, which was confirmed by the fluorescent in-situ hybridization-probing of two additional archival formalin-fixed, paraffin-imbedded similar tumors. On the basis of the findings in these three cases, it seems that clonal trisomy 4 may be considered as a characteristic of the tumor, which makes it distinct from any other infantile renal tumor.

Tetrasomy 13q32.2qter due to an apparent inverted duplicated neocentric marker chromosome in an infant with hemangiomas, failure to thrive, laryngomalacia, and tethered cord.

BACKGROUND: Approximately 100 small supernumerary marker chromosomes (sSMCs) with a non-α-satellite neocentromere structure have been reported in the literature. Of the few derived from chromosome 13, five have consisted of inverted duplicated segment 13q32qter. CASE REPORT: We herein describe the sixth case, characterized by genome wide SNP array, conventional cytogenetics and FISH studies. The de novo occurrence of the marker, the poor prognosis and the presence of hemangiomas are consistent with previous cases. CONCLUSION: We hereby expand the clinical spectrum of this rare cytogenetic disorder and suggest a possible mechanism for the pathogenesis of associated congenital vascular malformations.