2,704 results match your criteria DiGeorge Syndrome


Long noncoding RNA DGCR5 suppresses gastric cancer progression by acting as a competing endogenous RNA of PTEN and BTG1.

J Cell Physiol 2018 Dec 4. Epub 2018 Dec 4.

Department of General Surgery, Affiliated People's Hospital of Jiangsu University, Zhenjiang, China.

Long noncoding RNA (lncRNA) DiGeorge syndrome critical region gene 5 (DGCR5) has been reported to correlate with a variety of cancers, with its expression pattern and potential mechanism not clarified in gastric cancer (GC). In this study, we demonstrated that DGCR5 was downregulated in cancerous tissues and plasma samples from patients with GC, and its downregulation was associated with advanced TNM stage and positive lymphatic metastasis. Plasma DGCR5 had an area under the receiver operating characteristic curve (AUC) of 0. Read More

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December 2018

Anomalous Fusion of Right Pulmonary Artery to Aortic Arch: Case Report of a Rare and Fatal Congenital Malformation in a Newborn and a Literature Review.

Am J Case Rep 2018 Nov 28;19:1416-1421. Epub 2018 Nov 28.

Department of Medical, Oral and Biotechnological Sciences, University 'G. d'Annunzio' of Chieti-Pescara, Chieti, Italy.

BACKGROUND We present a report of a rare cardiac malformation case as well as a review of the literature. In addition, the diagnostic features are discussed. CASE REPORT The case of a female newborn who died on her third day of life was studied at the Institute of Legal Medicine, University of Chieti-Pescara (Italy). Read More

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November 2018
1 Read

22q11.2 deletion detected by hybridization in Mexican patients with velocardiofacial syndrome-like features.

Colomb Med (Cali) 2018 Sep 30;49(3):219-222. Epub 2018 Sep 30.

División de Genética - CIBO. Instituto Mexicano del Seguro Social, Guadalajara, México.

Introduction: Deletion 22q11.2 occurs in 1:4,000-1:6,000 live births while 10p13p14 deletion is found in 1:200,000 newborns. Both deletions have similar clinical features such as congenital heart disease and immunological anomalies. Read More

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September 2018
1 Read

Clozapine-induced myocarditis in an adolescent male with DiGeorge Syndrome.

Ment Health Clin 2018 Nov 1;8(6):313-316. Epub 2018 Nov 1.

Clinical Pharmacy Specialist, Pediatric Intensive Care and Cardiology/Heart Transplant, The Johns Hopkins Hospital, Baltimore, Maryland.

DiGeorge Syndrome (22q11.2 deletion syndrome) is a chromosomal disorder associated with both congenital heart malformations and schizophrenia, which is often treatment-resistant and may warrant treatment with clozapine. Clozapine-induced myocarditis (CIM) is a rare complication of clozapine therapy, with a reported incidence ranging from 0. Read More

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November 2018
1 Read

Molecular genetics of 22q11.2 deletion syndrome.

Am J Med Genet A 2018 Oct;176(10):2070-2081

Institute of Child Health, University College London, London, UK.

The 22q11.2 deletion syndrome (22q11.2DS) is a congenital malformation and neuropsychiatric disorder caused by meiotic chromosome rearrangements. Read More

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October 2018
4 Reads

The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.

Am J Med Genet A 2018 Oct;176(10):2167-2171

Clinical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Hypocalcemia has been reported in ~50% of patients 22q11.2DS and calcium regulation is known to play a role in neuronal development and synaptic plasticity. Because calcium ions play a role in neuronal function and development, we hypothesized that hypocalcemia would be associated with adverse effects on full scale IQ index (FSIQ) in patients with 22q11. Read More

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October 2018
1 Read

Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).

Curr Allergy Asthma Rep 2018 Oct 30;18(12):75. Epub 2018 Oct 30.

Department of Pathology, Division of Genomic Medicine, Children's Hospital Los Angeles, USC Keck School of Medicine, 4650 Sunset Blvd, Los Angeles, CA, 90027, USA.

Purpose Of Review: This review provides an update on the progress in identifying the range of immunological dysfunction seen in DiGeorge syndrome and on more recent diagnostic and treatment approaches.

Recent Findings: Clinically, the associated thymic hypoplasia/aplasia is well known and can have profound effects on T cell function. Further, the humoral arm of the immune system can be affected, with hypogammaglobulinemia and poor vaccine-specific antibody response. Read More

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October 2018
2 Reads

A Bibliometric Analysis of Cleft Lip and Palate-Related Publication Trends From 2000 to 2017.

Cleft Palate Craniofac J 2018 Oct 30:1055665618807822. Epub 2018 Oct 30.

1 Key Laboratory of Health Ministry for Congenital Malformation, Shengjing Hospital, China Medical University, Shenyang, China.

Objective:: Cleft lip and palate (CLP) is the most common human cranial and maxillofacial birth defect. The aim of this bibliometric analysis was to provide an overview of the development of CLP-related research.

Method:: Cleft lip and palate-related studies published from 2000 to 2017 were retrieved from the Science Citation Index Expanded core database. Read More

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October 2018
2 Reads

Schizophrenia in DiGeorge Syndrome: A Unique Case Report.

Cureus 2018 Aug 14;10(8):e3142. Epub 2018 Aug 14.

Behavioral Health, Kings County Hospital Center, New York, USA.

Herein we present the unique case of a 21-year-old African American woman who presented with psychotic features and the incidental finding of basal ganglia calcifications on computed tomography (CT) scan of the head. She was initially presumed to have Fahr's syndrome in the context of idiopathic bilateral basal ganglia calcifications and psychotic features. Genetic testing performed revealed the deletion of 22q11. Read More

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August 2018
7 Reads

Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells.

Reprod Sci 2018 Oct 16:1933719118804416. Epub 2018 Oct 16.

1 Department of Obstetrics and Gynecology, Xijing Hospital, The Fourth Military Medical University, Xi'an, China.

Objective: To evaluate the diagnostic accuracy of the BACs-on-Beads (BoBs) assay for the rapid diagnosis of common aneuploidies and microdeletion syndromes.

Methods: BACs-on-Beads and chromosomal karyotyping were used for detecting 3647 cases of amniotic fluid samples with indications for prenatal diagnosis, which were collected from January 2015 to June 2017 in Xijing Hospital. Fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA) provided further validation. Read More

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October 2018
7 Reads

SEPIAPTERIN, ALLEVIATES IMPAIRED GASTRIC nNOS FUNCTION IN SPONTANEOUS DIABETIC FEMALE RODENTS THROUGH NRF2 mRNA TURNOVER and miRNA BIOGENESIS PATHWAY.

Am J Physiol Gastrointest Liver Physiol 2018 Oct 4. Epub 2018 Oct 4.

ODS & Research, Meharry Medical College.

An impaired nitrergic system and altered redox signaling contribute to gastric dysmotility in diabetics. Our earlier studies show that NF-E2-related factor 2 (NRF2) and Phase II antioxidant enzymes play a vital role in gastric neuronal nitric oxide synthase (nNOS) function. This study aims to investigate whether supplementation of sepiapterin (SEP), a precursor for BH (a cofactor of NOS) via salvage pathway, restores altered nitrergic systems and redox balance in spontaneous diabetic (DB) female rats. Read More

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October 2018
4 Reads

Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome.

Am J Med Genet A 2018 Oct 1;176(10):2099-2103. Epub 2018 Oct 1.

Human Genetics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

Hypocalcemia is one of the cardinal features of the chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome. Read More

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October 2018
10 Reads

Detecting 22q11.2 Deletion Syndrome in Newborns with Low T Cell Receptor Excision Circles from Severe Combined Immunodeficiency Screening.

J Pediatr 2018 Sep 26. Epub 2018 Sep 26.

Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Renai Branch, Taipei City Hospital, Taipei, Taiwan. Electronic address:

Objective: Based on experiences and results from newborn screening for severe combined immunodeficiency (SCID), we evaluated the occurrence of chromosome 22q11.2 deletion syndrome (22q11.2DS) in newborns with different T cell receptor excision circles (TREC) results and established a second tier genetic test for 22q11. Read More

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September 2018
11 Reads

Hyper IgE syndromes: clinical and molecular characteristics.

Immunol Cell Biol 2018 Sep 28. Epub 2018 Sep 28.

Seattle Children's Research Institute, Seattle, Washington, USA.

Hyper IgE syndromes comprise a group of rare primary immunodeficiency disorders characterized by a triad of atopic dermatitis, recurrent skin and lung infections along with elevated IgE levels. Job syndrome or autosomal dominant hyper IgE syndrome because of heterozygous loss-of-function mutations with dominant negative effect in signal transducer and activator of transcription-3 is the prototype of these disorders. However, several other genetically characterized immunodeficiency disorders have been identified over the past decade and joined the umbrella of hyper IgE syndromes including autosomal recessive mutations in the DOCK8, ZNF431 and PGM3 genes and heterozygous mutations with dominant negative effect in the CARD11 gene. Read More

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September 2018
2 Reads

Early-onset psychosis in an adolescent with DiGeorge syndrome: A case report.

S Afr J Psychiatr 2018 21;24:1164. Epub 2018 Feb 21.

Department of Psychiatry, University of Botswana, Botswana.

DiGeorge syndrome (DGS) was first described in 1829 by Dr Angelo DiGeorge. DGS is a cluster of symptoms because of a defect in the development of the pharyngeal pouch. Evidence from cytogenetic studies has linked the pathogenesis of DGS with a deletion of a gene located in chromosome 22-band 22q11. Read More

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February 2018
8 Reads

Defective Vagal Innervation in Murine Mutant Hearts.

J Cardiovasc Dev Dis 2018 Sep 23;5(4). Epub 2018 Sep 23.

UCL Great Ormond Street-Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

Haploinsufficiency of the T-box transcription factor is responsible for many features of 22q11.2 deletion syndrome. is expressed dynamically in the pharyngeal apparatus during mouse development and homozygous mutants display numerous severe defects including abnormal cranial ganglion formation and neural crest cell defects. Read More

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September 2018
2 Reads

22q and two: 22q11.2 deletion syndrome and coexisting conditions.

Am J Med Genet A 2018 Oct 23;176(10):2203-2214. Epub 2018 Sep 23.

The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

22q11.2 deletion syndrome (DS) is the most frequent copy number variant (CNV) affecting ~1/1,000 fetuses and ~1/2,000-4,000 children, resulting in recognizable but variable findings across multiple organ systems. Patients with atypical features should prompt consideration of coexisting diagnoses due to additional genome-wide mutations, CNVs, or mutations/CNVs on the other allele, unmasking autosomal recessive conditions. Read More

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October 2018
1 Read

Upregulation of lncRNA DGCR5 correlates with better prognosis and inhibits bladder cancer progression via transcriptionally facilitating P21 expression.

J Cell Physiol 2018 Sep 21. Epub 2018 Sep 21.

Department of Urinary Surgery, Shanghai Ruijin Hospital, Shanghai, China.

Mounting studies show that long noncoding RNAs (lncRNAs) could affect human cancer progression, including bladder cancer (BCa). LncRNA DiGeorge syndrome critical region gene 5 (DGCR5) has been proven to be involved in lung cancer, pancreatic ductal adenocarcinoma, and hepatocellular carcinoma. However, the function of DGCR5 in BCa remains largely unknown. Read More

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September 2018
1 Read

unbalanced translocation t(15;22)(q26.2;q12) with velo-cardio-facial syndrome: A case report and review of the literature.

Exp Ther Med 2018 Oct 16;16(4):3589-3595. Epub 2018 Aug 16.

Department of Functional Sciences, Victor Babeș University of Medicine and Pharmacy, 300173 Timisoara, Romania.

The present study reports the case of a 3-h old male with a unbalanced t(15;22) translocation and velo-cardio-facial syndrome (VCFS), with other abnormalities. The manifestations of the condition observed in the patient included cleft palate with feeding difficulties, respiratory infection, dysmorphic face with almond-shaped eyes, a long and wide nose, small and low-set ears, tetralogy of Fallot, cryptorchidism and varus equinus. Standard lymphocyte cytogenetic analysis using G-banding demonstrated a 45,XY,-22,der (15),t(15;22)(q26. Read More

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October 2018
101 Reads
0.940 Impact Factor

Identification of microdeletion and microduplication syndromes by chromosomal microarray in patients with intellectual disability with dysmorphism.

Neurol India 2018 Sep-Oct;66(5):1370-1376

Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Background: A retrospective analysis using chromosomal microarray in syndromic patients with intellectual disability from genetic clinics of a tertiary healthcare center in India was conducted.

Aim: To identify the spectrum of chromosomal abnormalities detected on microarray analysis.

Settings And Design: Cases were identified among those with intellectual disability with dysmorphism attending genetic clinics of a tertiary care center. Read More

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September 2018
2 Reads

Long noncoding RNA DGCR5 represses hepatocellular carcinoma progression by inactivating Wnt signaling pathway.

J Cell Biochem 2019 Jan 19;120(1):275-282. Epub 2018 Sep 19.

Department of General Surgery, Lianshui County People's Hospital, Huai'an, China.

Increasing studies have indicated that long noncoding RNAs (lncRNAs) exert important roles in hepatocellular carcinoma (HCC). Therefore, it is of great significance to identify the dysregulated lncRNAs in HCC. According to the previous reports, it has been suggested that DiGeorge syndrome critical region gene 5 (DGCR5) might participate in HCC and can serve as potential biomarker for HCC. Read More

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January 2019
1 Read

Trajectories of psychiatric diagnoses and medication usage in youth with 22q11.2 deletion syndrome: a 9-year longitudinal study.

Psychol Med 2018 Sep 18:1-9. Epub 2018 Sep 18.

Departments of Psychiatry and Behavioral Sciences,State University of New York at Upstate Medical University,Syracuse, New York,USA.

Background: Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with high rates of psychiatric disorders, including schizophrenia in up to 30% of individuals with the syndrome. Despite this, we know relatively little about trajectories and predictors of persistence of psychiatric disorders from middle childhood to early adulthood. Read More

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September 2018
1 Read

Copy number variations in the GATA4, NKX2-5, TBX5, BMP4 CRELD1, and 22q11.2 gene regions in Chinese children with sporadic congenital heart disease.

J Clin Lab Anal 2018 Sep 17:e22660. Epub 2018 Sep 17.

Department of Medical Genetics, Liuzhou Maternal and Children Healthcare Hospital, Liuzhou, China.

Background: Congenital heart disease (CHD) is a common birth defect originating from both environmental and genetic factors. An overabundance of copy number variations (CNVs) affecting cardiac-related genes has previously been detected in individuals with CHD.

Objective: To evaluate if the presence of CNVs in the 22q11. Read More

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September 2018
2 Reads

LncRNA DGCR5 represses the development of hepatocellular carcinoma by targeting the miR-346/KLF14 axis.

J Cell Physiol 2018 Jan 14;234(1):572-580. Epub 2018 Sep 14.

Imaging Department, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.

Long non-coding RNAs (lncRNAs) are a class of regulatory noncoding RNAs. Emerging evidence highlights the critical roles of lncRNAs in the progression of hepatocellular carcinoma (HCC). Although many lncRNAs have been identified in the development of HCC, the association between DiGeorge syndrome critical region gene 5 (DGCR5) and HCC remains unclear. Read More

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January 2018
1 Read

Otolaryngological features in a cohort of patients affected with 22q11.2 deletion syndrome: A monocentric survey.

Am J Med Genet A 2018 Oct 12;176(10):2128-2134. Epub 2018 Sep 12.

Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

Otorhinolaryngologic manifestations are common in 22q11.2 deletion syndrome (22q11.2DS), but poorly described. Read More

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October 2018
2 Reads

Deletion of 22q11 chromosome is associated with postoperative morbidity after unifocalisation surgery.

Cardiol Young 2018 Aug 30:1-4. Epub 2018 Aug 30.

1Division of Pediatric Cardiology,Stanford Hospital and Clinics,Stanford,CA,USA.

Background: A 22q11 chromosome deletion is common in patients with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals. We sought to determine whether 22q11 chromosome deletion is associated with increased postoperative morbidity after unifocalisation surgery.

Methods: We included all patients with this diagnosis undergoing primary or revision unifocalisation ± ventricular septal defect closure at our institution from 2008 to 2016, and we excluded patients with unknown 22q11 status. Read More

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August 2018
3 Reads

Deletion of the T-box transcription factor gene, Tbx1, in mice induces differential expression of genes associated with cleft palate in humans.

Arch Oral Biol 2018 Nov 9;95:149-155. Epub 2018 Aug 9.

Life Science Center of Tsukuba Advanced Research Alliance, University of Tsukuba, Tsukuba 305-8577, Japan.

Objective: We examined the function of the T-box transcription factor 1 (TBX1) in palatogenesis.

Design: Tbx1-knockout mice were histologically examined by hematoxylin and eosin staining. Next, secondary palatal shelves dissected from wild type or Tbx1-knockout mice embryos at embryonic day 13. Read More

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November 2018
14 Reads

Follicular Helper T Cells in DiGeorge Syndrome.

Front Immunol 2018 23;9:1730. Epub 2018 Jul 23.

Department of Immunology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia.

DiGeorge syndrome is an immunodeficiency characterized by thymic dysplasia resulting in T cell lymphopenia. Most patients suffer from increased susceptibility to infections and heightened prevalence of autoimmune disorders, such as autoimmune thrombocytopenia. B cells in DiGeorge syndrome show impaired maturation, with low switched-memory B cells and a wide spectrum of antibody deficiencies or dysgammaglobulinemia, presumably due to impaired germinal center responses. Read More

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July 2018
2 Reads

Novel heterozygous mutation in in an infant with hypocalcemic seizures.

Clin Pediatr Endocrinol 2018 31;27(3):159-164. Epub 2018 Jul 31.

Department of Pediatrics, Okayama University Hospital, Okayama, Japan.

Patients with 22q11.2 deletion syndrome have characteristic facial appearance, palate abnormalities, hypoparathyroidism, thymic hypoplasia, and congenital heart disease. The 22q11. Read More

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July 2018
2 Reads

Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome.

Cell Rep 2018 Jul;24(5):1342-1354.e5

Cardiovascular Research Center, Massachusetts General Hospital, Charlestown, MA 02129, USA; Harvard Medical School, Boston, MA 02115, USA; Harvard Stem Cell Institute, Cambridge, MA 02138, USA. Electronic address:

Microdeletions involving TBX1 result in variable congenital malformations known collectively as 22q11.2 deletion syndrome (22q11.2DS). Read More

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July 2018
5 Reads

Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.

Am J Med Genet A 2018 Aug 28;176(8):1735-1741. Epub 2018 Jul 28.

Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

22q deletion syndrome (22q11.2DS) is most often correlated prenatally with congenital heart disease and or cleft palate. The extracardiac fetal phenotype associated with 22q11. Read More

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August 2018
6 Reads

Noncanonical functions of microRNA pathway enzymes - Drosha, DGCR8, Dicer and Ago proteins.

FEBS Lett 2018 Sep 13;592(17):2973-2986. Epub 2018 Aug 13.

Sir William Dunn School of Pathology, University of Oxford, UK.

MicroRNAs (miRNAs) are small regulatory noncoding RNAs that are generated in the canonical RNA interference (RNAi) pathway. Drosha, DiGeorge syndrome critical region 8 (DGCR8) and Dicer are key players in miRNA biogenesis. Argonaute (Ago) proteins bind to miRNAs and are guided by them to find messenger RNA targets and carry out post-transcriptional silencing of protein-coding genes. Read More

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September 2018
2 Reads

T-box genes and retinoic acid signaling regulate the segregation of arterial and venous pole progenitor cells in the murine second heart field.

Hum Mol Genet 2018 Nov;27(21):3747-3760

Aix-Marseille Univ, CNRS UMR 7288, IBDM, Marseille, France.

The arterial and venous poles of the mammalian heart are hotspots of congenital heart defects (CHD) such as those observed in 22q11.2 deletion (or DiGeorge) and Holt-Oram syndromes. These regions of the heart are derived from late differentiating cardiac progenitor cells of the Second Heart Field (SHF) located in pharyngeal mesoderm contiguous with the elongating heart tube. Read More

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November 2018
15 Reads

: report of three cases and review of literature.

Afr Health Sci 2018 Mar;18(1):147-156

Department of Fetopathology, CHU Pellegrin, place Amélie Raba, 33076 Bordeaux cedex France.

Background: (TAC) is a congenital heart defect in which the physiologic arterial common trunk was not divided into aorta and pulmonary artery trunk.

Objectives: In this paper, we report on three observed cases from which we looked for (in conjunction with literature review) the different causes of TAC many of which have genetic origins.

Methods: We collected three clinical files of fetuses having a TAC. Read More

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March 2018
11 Reads

Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders.

Neurosci Bull 2018 Dec 9;34(6):981-991. Epub 2018 Jun 9.

Developmental and Behavioral Pediatric & Child Primary Care Department, Ministry of Education-Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.

Chromosome microarray analysis (CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-line diagnostic test in neurodevelopmental disorders in the USA since 2011. The impact of CMA results on clinical practice in China is not yet well studied, so we aimed to better evaluate this phenomenon. We analyzed the CMA results from 434 patients in our clinic, and characterized their molecular diagnoses, clinical features, and follow-up clinical actions based on these results. Read More

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December 2018
8 Reads

[Application for prenatal diagnosis using both chromosomal karyotype analysis and BACs-on-Beads assay].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Jun;35(3):357-360

Prenatal Diagnose Center of Xinjiang Maternal and Child Health Hospital, Urumuqi, Xinjiang 830000, China.

Objective: To assess the application value in prenatal diagnosis using karyotype analysis combined with BACs-on-Beads (BoBs) assay.

Methods: Nine hundred sixty five pregnant women were subjected to amniocentesis, chromosomal karyotype analysis and detection of BoBs were employed simultaneously for abnormal number of chromosomes and 9 chromosome microdeletion syndrome in prenatal diagnosis.

Results: Fifty cases common chromosome aneupoidies were successfully detected by both karyotype analysis and BoBs which included 31 cases of trisomy 21,10 cases of trisomy 18 and 9 cases with sex chromosome abnormality. Read More

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June 2018
6 Reads

Gene expression profiling in the developing secondary palate in the absence of Tbx1 function.

BMC Genomics 2018 Jun 4;19(1):429. Epub 2018 Jun 4.

Centre for Craniofacial Development and Regeneration, King's College London Dental Institute, Floor 27, Guy's Tower, London, SE1 9RT, UK.

Background: Microdeletion of chromosome 22q11 is associated with significant developmental anomalies, including disruption of the cardiac outflow tract, thymic/parathyroid aplasia and cleft palate. Amongst the genes within this region, TBX1 is a major candidate for many of these developmental defects. Targeted deletion of Tbx1 in the mouse has provided significant insight into the function of this transcription factor during early development of the cardiac and pharyngeal systems. Read More

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June 2018
11 Reads

Hypoparathyroidism concomitant with macrothrombocytopenia in an elderly woman with 22q11.2 deletion syndrome.

Platelets 2018 Nov 31;29(7):733-736. Epub 2018 May 31.

a Division of Nephrology, Department of Medicine , Tri-Service General Hospital, National Defense Medical Center , Taipei , Taiwan.

We describe the case of a 62-year-old woman with schizophrenia and intellectual disability, who presented with intermittent muscle cramping for 2 weeks. A dysmorphic face and a positive Trousseau's sign, but without ecchymosis or petechial lesion were noted. Laboratory data revealed impaired renal function (creatinine level = 1. Read More

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November 2018
3 Reads

Syndromes with aortic involvement: pictorial review.

Authors:
Evan J Zucker

Cardiovasc Diagn Ther 2018 Apr;8(Suppl 1):S71-S81

Department of Radiology, Stanford University School of Medicine, Stanford, CA, USA.

A variety of syndromes are associated with thoracoabdominal aortic pathologies. While these diseases are collectively rare, the presence of advanced or unusual aortic disease at a young age should raise suspicion of an underlying syndrome. Similarly, patients with a known syndrome require close monitoring in anticipation of future aortic disease. Read More

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April 2018
3 Reads

Noninvasive prenatal testing (NIPT) detects variant of Turner syndrome not detectable by fluorescent in situ hybridization.

J Matern Fetal Neonatal Med 2018 Jun 13:1-4. Epub 2018 Jun 13.

a Medgenome Labs Ltd. , Narayana Nethralaya , Bangalore , India.

Introduction: Noninvasive prenatal testing (NIPT) is a reliable screening method for fetal aneuploidy detection of trisomy 18, 13, 21 along with few sex chromosome abnormalities monosomy X, XXX, XXY (Klinefelter), XYY (Jacob) syndromes and certain microdeletions which include cri-du-chat, DiGeorge, 1p36, Angelman, and Prader-Willi syndromes in comparison to the available screening methods. Prenatal screening of Turners syndrome is possible by ultrasound in certain conditions only. Recently benefits of early detection and treatment of Turners syndrome has been emphasized, enforcing on accurate and early screening prenatally. Read More

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June 2018
8 Reads

The effects of aberrant expression of LncRNA DGCR5/miR-873-5p/TUSC3 in lung cancer cell progression.

Cancer Med 2018 May 23. Epub 2018 May 23.

Department of Radiation Oncology, Shandong Cancer Hospital and Institute, Shandong Cancer Hospital Affiliated to Shandong University, Shandong Academy of Medical Sciences, Jinan, China.

Lung cancer is the most common cause of cancer-related mortality worldwide, and nonsmall cell lung cancer (NSCLC) accounts for 80% of all pulmonary carcinomas. Recently, long noncoding RNAs (lncRNAs) have been paid attention for exploring treatment of various diseases. Upregulation of DiGeorge syndrome critical region gene 5 (DGCR5) predicts better lung squamous cell carcinoma prognosis; therefore, we explore the role of DGCR5 in lung cancer in our present study. Read More

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May 2018
2 Reads

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.

Am J Med Genet A 2018 Oct 19;176(10):2146-2159. Epub 2018 May 19.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

Individuals with 22q11.2 deletion syndrome (22q11.2DS) are at elevated risk of developing treatable psychiatric and neurological disorders, including anxiety disorders, schizophrenia, seizures, and movement disorders, often beginning in adolescence or early to mid-adulthood. Read More

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October 2018
5 Reads

An Update on Common Chromosome Microdeletion and Microduplication Syndromes.

Authors:
Paula Goldenberg

Pediatr Ann 2018 May;47(5):e198-e203

This review summarizes common microdeletion and microduplication syndromes and highlights important updates in patient-care needs for people with these conditions (22q11.2, 7q11.23, 17p11. Read More

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May 2018
2 Reads

Airway Anomalies in Patients With 22q11.2 Deletion Syndrome: A 5-Year Review.

Ann Otol Rhinol Laryngol 2018 Jun 7;127(6):384-389. Epub 2018 May 7.

2 Department of Otolaryngology, Children's Mercy Hospital, Kansas City, Missouri, USA.

Objectives: To characterize the frequency of airway anomalies in patients with 22q11.2 deletion syndrome (22q11DS).

Methods: Retrospective review of patients with 22q11DS who had undergone microlaryngoscopy/bronchoscopy (MLB) for aerodigestive symptoms at a tertiary care children's hospital from 2011 to 2016. Read More

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June 2018
2 Reads

The rarest aortic arch anomaly a case report of asymptomatic isolation of the subclavian artery.

Images Paediatr Cardiol 2017 Apr-Jun;19(2):9-12

Department of Paediatrics, Mater Dei Hospital, Malta.

We present a rare case of isolated right subclavian artery arising from a right-sided patent arterial duct in a patient with DiGeorge syndrome, diagnosed on cardiac CT, along with potential complications and management approaches. Read More

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May 2018
1 Read

Congenital and iatrogenic laryngeal and vocal abnormalities in patients with 22q11.2 deletion.

Int J Pediatr Otorhinolaryngol 2018 Jun 13;109:17-20. Epub 2018 Mar 13.

ENT and Facial Plastic Surgery, Children's of Minnesota, Minneapolis, MN, USA; University of Minnesota, Department of Otolaryngology, Minneapolis, MN, USA. Electronic address:

Background: Voice abnormalities often go unrecognized in patients with 22q11.2 deletion because speech abnormalities become the focus of evaluation.

Objective: To analyze voice and vocal fold abnormalities in patients with 22q11. Read More

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June 2018
2 Reads

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

Hum Mol Genet 2018 Jul;27(14):2454-2465

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

The 17 genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many of the T-box genes. For example, haploinsufficiency of TBX1 is responsible for many structural malformations in DiGeorge syndrome caused by a chromosome 22q11. Read More

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July 2018
8 Reads

Role of DiGeorge syndrome critical region gene 9, a long noncoding RNA, in gastric cancer.

Onco Targets Ther 2018 19;11:2259-2267. Epub 2018 Apr 19.

Department of Medical Oncology, The Affiliated Hospital of Medical School of Ningbo University, Ningbo, People's Republic of China.

Introduction: Long non-coding RNAs (lncRNAs) regulate and influence cancer cell development and tumor formation. However, the role for lncRNAs in gastric cancer has not been fully established. In this study, , a lncRNA, was significantly upregulated in gastric cancer cell lines. Read More

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April 2018
4 Reads