Some CNV may be associated with disease in a patient and also present in their apparently healthy parents. According to the two-hit model another CNV may contribute to phenotypic variation of such genomic disorders. [cambridge.org]

Home > Interesting case report The ECARUCA website is updated with frequent presentation of interesting case reports in collaboration with the European Journal of Medical Genetics. [ecaruca.radboudumc.nl]

Four of the Primrose syndrome patients that were identified with ZBTB20 missense variants also presented with autism (Cordeddu et al., 2014). [gene.sfari.org]

All 57 patients presented mild-to-severe ID and/or a psychomotor delay. Facial features were similar with macrocephaly, prominent forehead, downslanting palpebral fissures, ptosis, and large ears. [drci-chu-clermontferrand.fr]

While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites [books.google.com]

• Developmental Delay

  This microduplication involves three strong candidate genes for the developmental delay ZBTB20, LSAMP and GAP43. [ncbi.nlm.nih.gov]

  3q13.31 deletion syndrome in a patient with autistic features and global developmental delay Copy-number variants have been shown to be involved in the etiology of neurodevelopmental disorders like autism spectrum disorders, developmental delay and other [scitechnol.com]

  The 580 kb deleted region includes five RefSeq genes and two of them are strong candidate genes for the developmental delay: DRD3 and ZBTB20. [moh-it.pure.elsevier.com]

  A common critical region of overlapping of 580kb was delineated including two strong candidate genes for developmental delay: DRD3 and ZBTB20. [semanticscholar.org]

• Developmental Disorder

  Disorders Study (2014) c.1020C>G p.Tyr340Ter stop_gained De novo - Unknown 25533962 Deciphering Developmental Disorders Study (2014) c.286G>C p.Glu96Gln missense_variant De novo - Unknown 25533962 Deciphering Developmental Disorders Study (2014) C/A [gene.sfari.org]

  Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities [natureasia.com]

  Many patients suffering from developmental disorders harbor submicroscopic deletions or duplications that, by affecting the copy number of dosage-sensitive genes or disrupting normal gene expression, lead to disease. [scienceopen.com]

• Heart Disease

  Identification of novel genomic imbalances in Saudi patients with congenital heart disease. [pubmed.ncbi.nlm.nih.gov]

• High Arched Palate

  Genotype-phenotype comparison in 24 patients sharing this shortest region of overlapping deletion revealed several common major characteristics including significant developmental delay, muscular hypotonia, a high arched palate, and recognisable facial [ncbi.nlm.nih.gov]

  […] phenotype comparison in 24 patients sharing this shortest region of overlapping deletion revealed several common major characteristics including significant developmental delay, muscular hypotonia, a high arched palate, and recognisable facial features [moh-it.pure.elsevier.com]

  Genotype. phenotype comparison in 24 patients sharing this shortest region of overlapping deletion revealed several common major characteristics including significant developmental delay, muscular hypotonia, a high arched palate, and recognisable facial [bv.fapesp.br]

  Patient has a facial asymmetry due to facial palsy, prominent supraorbital ridges, enophtalmia, proganathism, high arched palate, bifid uvula, and thin upper lip. [ecaruca.radboudumc.nl]

  arched palate, flat occiput, frontal and occipital hair whorls (Figure 1 ) Dolichocephaly, prominent broad forehead, strabismus, myopia, ptosis, antimongoloid slant, short philtrum, high arched palate, large ears, crowded teeth, soft enamel Prominent [molecularcytogenetics.biomedcentral.com]

• Antimongoloid Slant

  Physical characteristics of note are short philtrum, protruding lips with full lower lips and tented upper lips, hypertelorism, and antimongoloid slanted eyes present in several cases. [pubmed.ncbi.nlm.nih.gov]

  slant, short philtrum, high arched palate, large ears, crowded teeth, soft enamel Prominent/broad forehead, high arched palate, large fleshy ears, pointed chin Absent eyebrows, epicanthal folds, down slanting palpebral fissures, ptosis, high palate, [molecularcytogenetics.biomedcentral.com]

• Muscle Hypotonia

  A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay. [degruyter.com]

  Hypotonia Sequence Deletion Syndrome Pub Type(s) Case Reports Journal Article Research Support, Non-U.S. [unboundmedicine.com]

  View Article PubMed Google Scholar Shimojima K, Saito K, Yamamoto T: A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay. [molecularcytogenetics.biomedcentral.com]

• Long Arm

  A case report of partial deletion of the long arm of the no.3 chromosome. Med Genet Res 1982:4:1–4 Google Scholar [2] H. Fujita, J. Meng, M. Kawamura, N. Tozuka, F. Ishii, N. Tanaka. [degruyter.com]

  Deletion of the proximal long arm of chromosome 3 in an infant with features of Turner syndrome. Ann Genet 1985;28:42–4 - PubMed Lawson-Yuen A, Berend SA, Soul JS, Irons M. [pubmed.ncbi.nlm.nih.gov]

• Dolichocephaly

  Kyphosis NR NR Genitalia NA Small testes (8 ml) Normal Small introitus Craniofacial Broad neck, facial asymmetry, strabismus, narrow palpebral fissures, long philtrum, narrow high arched palate, flat occiput, frontal and occipital hair whorls (Figure 1 ) Dolichocephaly [molecularcytogenetics.biomedcentral.com]

• Suggestibility

  Furthermore, two genes are suggested to be responsible for the main phenotype. [ncbi.nlm.nih.gov]

  We therefore suggest the combination of both conventional and molecular karyotyping in the investigation of certain genetic diseases. [ecaruca.radboudumc.nl]

  In particular, recent reports suggest miRNAs may play a role in mediating the risk for neurodevelopmental disorders [ 22, 23 ]. [molecularcytogenetics.biomedcentral.com]

  Furthermore, two genes are suggested to be responsible for the main phenotype. (AU) [bv.fapesp.br]

• Protruding Lips

  OMIM : 57 The chromosome 3q13.31 deletion syndrome is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia (Molin et al., 2012). [malacards.org]

  Physical characteristics of note are short philtrum, protruding lips with full lower lips and tented upper lips, hypertelorism, and antimongoloid slanted eyes present in several cases. [pubmed.ncbi.nlm.nih.gov]

• Hypertelorism

  Affiliated tissues include testes, and related phenotypes are macrocephaly and hypertelorism [malacards.org]

  Physical characteristics of note are short philtrum, protruding lips with full lower lips and tented upper lips, hypertelorism, and antimongoloid slanted eyes present in several cases. [pubmed.ncbi.nlm.nih.gov]

• Global Developmental Delay

  3q13.31 deletion syndrome in a patient with autistic features and global developmental delay Copy-number variants have been shown to be involved in the etiology of neurodevelopmental disorders like autism spectrum disorders, developmental delay and other [scitechnol.com]

  She has global developmental delay and is at 4 month old development at almost 9 months old. She has hypertonia and spasticity which affect her movement and coordination. [thepicta.com]

  developmental delay/intellectual disability (DD/ID), speech delay, autism spectrum disorder (ASD), and attention deficit hyperactivity disorder (ADHD) [ 1 – 5 ]. [molecularcytogenetics.biomedcentral.com]

• Cryptorchidism

  We report on a 2-year-old patient with autistic features, global developmental delay, craniofacial dysmorphism, and cryptorchidism carrying a large proximal deletion of chromosome 3q, detected by chromosomal microarray. [scitechnol.com]

  The patient had the following clinical features: intrauterine growth retardation at birth, hypotonia, cryptorchidism, facial asymmetry, enophthalmus, mild prognathism, bifid uvula, hypoplastic upper limb phalanges, DD including speech delay, and ID. [ecaruca.radboudumc.nl]

  […] touchscreens for communication, special education, routine antiepileptic medications, orthopaedic care for scoliosis, hip dislocation and positional deformities of the feet, treatment for cardiac, renal, urologic and other medical issues and surgery for cryptorchidism [en.wikipedia.org]

2013, 21 (6):620–625. 10.1038/ejhg.2012.219 PubMed Central View Article PubMed Google Scholar Materna-Kiryluk A, Kiryluk K, Burgess KE, Bieleninik A, Sanna-Cherchi S, Gharavi AG, Latos-Bielenska A: The emerging role of genomics in the diagnosis and workup [molecularcytogenetics.biomedcentral.com]

• Candida

  Rapid Identification of Medically Important Candida Isolates Using High Resolution Melting Analysis. [connection.ebscohost.com]

Central Nervous System Diseases—Advances in Research and Treatment: 2013 Edition is a ScholarlyEditions™ book that delivers timely, authoritative, and comprehensive information about Brain Diseases. [books.google.com]

Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [orpha.net]

Treatment - Chromosome 3 duplication syndrome Not supplied. Resources - Chromosome 3 duplication syndrome Not supplied. [checkorphan.org]

The symptoms of Koolen–de Vreis syndrome can be very variable, and there is no single clinical sign required to establish the diagnosis. [11] Treatment [ edit ] Treatment centres around the symptoms in each individual and can include: early physiotherapy [en.wikipedia.org]

(PMID: 22037551) Shi Y … Shen H (Nature genetics 2011) 3 45 60 Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic [genecards.org]

Diagnosis - Chromosome 3 duplication syndrome These home medical tests may be relevant to Chromosome 3, trisomy 3p: * Cold & Flu : Home Testing: * Home Fever Tests * Home Ear Infection Tests * Home Flu Tests Prognosis - Chromosome 3 duplication syndrome [checkorphan.org]

3q13.31 deletion syndrome in a patient with autistic features and global developmental delay Copy-number variants have been shown to be involved in the etiology of neurodevelopmental disorders like autism spectrum disorders, developmental delay and other [scitechnol.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Numerous genetic linkage analysis studies have failed so far to reveal unequivocal evidence for the involvement of one of these receptors in the etiology of various central nervous system disorders. [scienceopen.com]

Relevant External Links for ZBTB20 Genetic Association Database (GAD) ZBTB20 Human Genome Epidemiology (HuGE) Navigator ZBTB20 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ZBTB20 No data available for Genatlas for ZBTB20 Gene Identification [genecards.org]

Bert Redeker & Raoul C Hennekam Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [nature.com]

[…] accession numbers phs000143.v1.p1 (Starr County Health Studies’ Genetics of Diabetes Study), phs000091.v2.p1 (GENEVA NHS/HPFS Diabetes study), phs000169.v1.p1 (Whole Genome Association Study of Visceral Adiposity in the HABC Study), phs000303.v1.p1 (Genetic Epidemiology [molecularcytogenetics.biomedcentral.com]

We discuss clinical features together with pathophysiological concepts of both conditions. Furthermore, we tackle social and legal hurdles in Germany that naturally arise in these patients. [medworm.com]

Kidney cysts * Kidney hypoplasia * Large mouth * Mental retardation * Motor retardation * Reduced muscle tone * Seizures * Short feet * Short neck * Short nose * Small eyes * Small jaw * Small penis * Speech retardation * Syndactyly * Widely spaced eyes Prevention [checkorphan.org]