当前位置： SCI文献检索 > European Journal of Medical Genetics期刊下所有文献 > A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

Abstract：

:The 17q21.31 microdeletion syndrome is a genetic disorder characterized by intellectual disability, facial dysmorphisms and a typical behavioral phenotype. Patients are usually described as friendly and cooperative but they can also show behavioral problems such as hyperactivity, bad humor, temper tantrums and poor interaction. Central nervous system involvement includes callosal dysgenesis/absence, enlargement of lateral ventricles and abnormalities of cyngulate gyrus. We report on two Italian patients with the 17q21.31 microdeletion syndrome better emphasizing neuroimaging and neuropsychological characteristics. In particular, we carried out an assessment of intellectual efficiency and behavior that turned out to be within the mild-moderate range of mental retardation, as already reported in the literature. To the best of our knowledge this is the first report of a patient with the 17q21.31 microdeletion and a Chiari malformation type 1 coexisting with a mild anomaly of medulla oblongata. This malformation should be considered in patients with the 17q21.31 microdeletion syndrome, presenting suggestive symptoms (headache, neck pain, cerebellar signs or muscle weakness).

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Terrone G,D'Amico A,Imperati F,Carella M,Palumbo O,Gentile M,Canani RB,Melis D,Romano A,Parente I,Riccitelli M,Del Giudice E

doi

10.1016/j.ejmg.2012.04.010

subject

Has Abstract

pub_date

2012-08-01 00:00:00

pages

466-71

issue

8-9

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(12)00157-7

journal_volume

55

pub_type

杂志文章

相关文献

European Journal of Medical Genetics文献大全
  • Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype.

    abstract：:Abnormalities involving sex chromosomes account for approximately 0.5% of live births. The phenotypes of individuals with mosaic cell lines having structural aberrations of the X and Y chromosomes are variable and hard to accurately predict. Phenotypes associated with sex chromosome mosaicism range from Turner syndrom...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.11.002

    authors： Reshmi SC,Miller JL,Deplewski D,Close C,Henderson LJ,Littlejohn E,Schwartz S,Waggoner DJ

    更新日期：2011-03-01 00:00:00

  • Projected number of children with isolated spina bifida or down syndrome in England and Wales by 2020.

    abstract：:Children with major congenital anomalies often require lifelong access to health and social care services. Estimating future numbers of affected individuals can aid health and social care planning. This study aimed to estimate the number of children aged 0-15 years living with spina bifida or Down syndrome in England ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.05.012

    authors： Best KE,Glinianaia SV,Lingam R,Morris JK,Rankin J

    更新日期：2018-09-01 00:00:00

  • A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12.

    abstract：:A 9-year-old girl born to healthy parents showed manifestations suggestive of ataxia telangiectasia (AT), such as short stature, sudden short bouts of horizontal and rotary nystagmus, a weak and dysarthric voice, rolling gait, unstable posture, and atactic movements. She did not show several cardinal features typical ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.08.001

    authors： Bartsch O,Schindler D,Beyer V,Gesk S,van't Slot R,Feddersen I,Buijs A,Jaspers NG,Siebert R,Haaf T,Poot M

    更新日期：2012-01-01 00:00:00

  • Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.

    abstract：BACKGROUND:Catatonia is a motor dysregulation syndrome co-occurring with a variety of psychiatric and medical disorders. Response to treatment with benzodiazepines and electroconvulsive therapy suggests a neurobiological background. The genetic etiology however remains largely unexplored. Copy Number Variants (CNV), kn...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.08.003

    authors： Breckpot J,Vercruyssen M,Weyts E,Vandevoort S,D'Haenens G,Van Buggenhout G,Leempoels L,Brischoux-Boucher E,Van Maldergem L,Renieri A,Mencarelli MA,D'Angelo C,Mericq V,Hoffer MJ,Tauber M,Molinas C,Castiglioni C,Brison N

    更新日期：2016-09-01 00:00:00

  • Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.

    abstract：:We identified a 495 Kb interstitial deletion of chromosome Xp22.2, centered on the AP1S2 gene, by means of oligonucleotide array comparative genomic hybridisation (array-CGH) in a child with marked hypotonia in the first months of life, psychomotor retardation, severely delayed walking and speech development, and unsp...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.12.001

    authors： Ballarati L,Cereda A,Caselli R,Maitz S,Russo S,Selicorni A,Larizza L,Giardino D

    更新日期：2012-02-01 00:00:00

  • Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management.

    abstract：:Despite numerous clinical series, consistent karyotype-phenotype correlations for Turner syndrome have not been established, although a lower level of 45,X is generally thought to be associated with a milder phenotype. This limits personalized counseling for women with 45,X/46,XX mosaicism. To better understand the ph...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2021.104140

    authors： Snyder EA,San Roman AK,Piña-Aguilar RE,Steeves MA,McNamara EA,Souter I,Hayes FJ,Levitsky LL,Lin AE

    更新日期：2021-01-29 00:00:00

  • Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.

    abstract：:Wolf-Hirschhorn Syndrome (WHS) is caused by deletions on chromosome 4p and is clinically well defined. Genotype-phenotype correlations of patients with WHS point to a critical locus to be responsible for the main characteristics of this disorder. Submicroscopic duplications of this region, however, are not known. Here...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.02.004

    authors： Hannes F,Drozniewska M,Vermeesch JR,Haus O

    更新日期：2010-05-01 00:00:00

  • Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6.

    abstract：:Boucher Neuhäuser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset ataxia, hypogonadism and chorioretinal dystrophy. We present two siblings diagnosed with BNS in late adult life identified with compound heterozygous state of two novel PNPLA6 mutations. Five health...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.11.003

    authors： Langdahl JH,Frederiksen AL,Nguyen N,Brusgaard K,Juhl CB

    更新日期：2017-02-01 00:00:00

  • Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

    abstract：:The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation syndrome caused by dehydrocholesterol reductase deficiency. The diagnosis is confirmed by high 7- and secondarily 8-dehydrocholesterol levels in plasma and tissues and/or by detection of biallelic mutations in the DHCR7 ge...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.12.002

    authors： Quélin C,Loget P,Verloes A,Bazin A,Bessières B,Laquerrière A,Patrier S,Grigorescu R,Encha-Razavi F,Delahaye S,Jouannic JM,Carbonne B,D'Hervé D,Aubry MC,Macé G,Harvey T,Ville Y,Viot G,Joyé N,Odent S,Attié-Bitach T

    更新日期：2012-02-01 00:00:00

  • Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.

    abstract：:Mutations in the oligophrenin 1 gene (OPHN1) have been identified in patients with X-linked intellectual disability (XLID) associated with cerebellar hypoplasia and ventriculomegaly, suggesting it could be a recognizable syndromic intellectual disability (ID). Affected individuals share additional clinical features in...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2018.03.002

    authors： Moortgat S,Lederer D,Deprez M,Buzatu M,Clapuyt P,Boulanger S,Benoit V,Mary S,Guichet A,Ziegler A,Colin E,Bonneau D,Maystadt I

    更新日期：2018-08-01 00:00:00

  • FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency.

    abstract：:We report a patient with congenital complex pituitary hormone deficiency (CPHD) with intestinal malrotation and anal atresia. We identified a de novo heterozygous mutation, c.664T > G (p.Cys222Gly), in the FOXA2 gene in this individual. This missense mutation had the potential to affect the DNA binding properties of t...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.11.004

    authors： Boda H,Miyata M,Inagaki H,Shinkai Y,Kato T,Yoshikawa T,Kurahashi H

    更新日期：2019-11-01 00:00:00

  • Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform.

    abstract：:Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of hereditary polyneuropathies. Variants in more than 80 different genes have been associated with the disorder. In recent years, the introduction of next generation sequencing (NGS) techniques have completely changed the genetic diagnostic approach from the a...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.04.003

    authors： Vaeth S,Christensen R,Dunø M,Lildballe DL,Thorsen K,Vissing J,Svenstrup K,Hertz JM,Andersen H,Jensen UB

    更新日期：2019-01-01 00:00:00

  • Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly.

    abstract：:Interstitial 19q13.11 deletions are associated with ectrodactyly, which has recently been linked to loss-of-function of the UBA2 gene. We report a boy with a de novo frameshift mutation in UBA2 (c.612delA (p.(Glu205Lysfs*63)), presenting with ectrodactyly of the feet associated with learning difficulties and minor phy...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.104009

    authors： Aerden M,Bauters M,Van Den Bogaert K,Vermeesch JR,Holvoet M,Plasschaert F,Devriendt K

    更新日期：2020-11-01 00:00:00

  • A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.

    abstract：:We report on a male patient with intra-uterine growth retardation, microcephaly, coloboma, laryngomalacia and developmental delay. Array CGH analysis revealed a 649 kb duplication on chromosome 1p34.1. Only five patients with overlapping duplications have been reported thus far. Ten known genes are located in the dupl...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2009.01.005

    authors： Hanemaaijer N,Dijkhuizen T,Haadsma M,Boeve M,Boon M,Hordijk R,Kok K,Sikkema-Raddatz B,van Ravenswaaij-Arts CM

    更新日期：2009-03-01 00:00:00

  • The impact of thalidomide use in birth defects in Brazil.

    abstract：:Although the thalidomide tragedy occurred more than 50 years ago, the medication is still being used worldwide for different reasons, and several aspects regarding its teratogenicity remain unsolved. Despite the strict regulation implemented, new cases of thalidomide embryopathy (TE) are still being registered in Braz...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.09.015

    authors： Sales Luiz Vianna F,Kowalski TW,Fraga LR,Sanseverino MT,Schuler-Faccini L

    更新日期：2017-01-01 00:00:00

  • CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

    abstract：:Copy number variations (CNVs) of the CNTN6 gene - a member of the contactin gene superfamily - have been previously proposed to have an association with neurodevelopmental and autism spectrum disorders. However, no functional evidence has been provided to date and phenotypically normal and mildly affected carriers com...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.02.008

    authors： Repnikova EA,Lyalin DA,McDonald K,Astbury C,Hansen-Kiss E,Cooley LD,Pfau R,Herman GE,Pyatt RE,Hickey SE

    更新日期：2020-01-01 00:00:00

  • 4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features.

    abstract：:Axenfeld-Rieger syndrome (ARS) is a heterogeneous clinical entity transmitted in an autosomal dominant manner. The main feature, Axenfeld-Rieger Anomaly (ARA), is a malformation of the anterior segment of the eye that can lead to glaucoma and impair vision. Extra-ocular defects have also been reported. Point mutations...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.10.018

    authors： Vande Perre P,Zazo Seco C,Patat O,Bouneau L,Vigouroux A,Bourgeois D,El Hout S,Chassaing N,Calvas P

    更新日期：2018-02-01 00:00:00

  • Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

    abstract：:Heterozygous point mutations or deletions of the NKX2-1 gene cause benign hereditary chorea (BHC) or a various combinations of primary hypothyroidism, respiratory distress and neurological disorders. Deletions proximal to, but not encompassing, NKX2-1 have been described in few subjects with brain-lung-thyroid syndrom...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.03.011

    authors： Invernizzi F,Zorzi G,Legati A,Coppola G,D'Adamo P,Nardocci N,Garavaglia B,Ghezzi D

    更新日期：2018-10-01 00:00:00

  • Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.

    abstract：:Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by deficiency of mitochondrial isovaleryl-CoA dehydrogenase (IVD). Accumulation of isovaleryl-CoA derivatives to toxic levels results in clinical symptoms of the disease. Here, we investigate the clinical and molecular featur...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2012.08.001

    authors： Hertecant JL,Ben-Rebeh I,Marah MA,Abbas T,Ayadi L,Ben Salem S,Al-Jasmi FA,Al-Gazali L,Al-Yahyaee SA,Ali BR

    更新日期：2012-12-01 00:00:00

  • Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.

    abstract：:We report on a patient with a microdeletion of chromosome region 9q22.32q31.1 including the PTCH1 gene (human homologue of the Drosophila patched 1 gene), review the findings in the reported patients with similar array CGH findings, and highlight the non nevoid basal cell carcinoma/non-Gorlin syndrome findings at an e...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2009.02.002

    authors： de Ravel TJ,Ameye L,Ballon K,Borghgraef M,Vermeesch JR,Devriendt K

    更新日期：2009-03-01 00:00:00

  • Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

    abstract：:Apparently balanced chromosome abnormalities are occasionally associated with mental retardation (MR). These balanced rearrangements may disrupt genes. However, the phenotype may also be caused by small abnormalities present at the breakpoints or elsewhere in the genome. Conventional karyotyping is not instrumental fo...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.06.003

    authors： Gijsbers AC,Bosch CA,Dauwerse JG,Giromus O,Hansson K,Hilhorst-Hofstee Y,Kriek M,van Haeringen A,Bijlsma EK,Bakker E,Breuning MH,Ruivenkamp CA

    更新日期：2010-09-01 00:00:00

  • BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome.

    abstract：:Congenital heart defects (CHD) are associated with the recurrent 10q22q23 deletion syndrome and with partially overlapping distal 10q23.2.q23.31 microdeletions. We report on a de novo intragenic deletion of the BMPR1A gene in a normally developing adolescent boy with short stature, delayed puberty, facial dysmorphism ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.10.003

    authors： Breckpot J,Tranchevent LC,Thienpont B,Bauters M,Troost E,Gewillig M,Vermeesch JR,Moreau Y,Devriendt K,Van Esch H

    更新日期：2012-01-01 00:00:00

  • Humanity and human DNA.

    abstract：:Genetics has marked the second half of the 20th century by addressing such formidable problems as the identification of our genes and their role, their interaction with the environment, and even their therapeutic uses. The identification of genes raises questions about differences between humans and non-humans, as wel...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2012.05.007

    authors： Mattei JF

    更新日期：2012-10-01 00:00:00

  • Split hand/foot malformation associated with 20p12.1 deletion: A case report.

    abstract：:Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting limb development characterized by clinical and genetic heterogeneity. SHFM is usually inherited as an autosomal dominant trait with incomplete penetrance. Isolated and syndromic forms are described. The extent of associated mal...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.103805

    authors： Ruaud L,Flöttmann R,Spielmann M,Escande F,Van Maldergem L,Mundlos S,Piard J

    更新日期：2020-04-01 00:00:00

  • 21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.

    abstract：:Here we report three patients affected with neurodevelopmental disorders and harbouring 21q21 deletions involving NCAM2 gene. NCAM (Neural Cell Adhesion Molecule) proteins are involved in axonal migration, synaptic formation and plasticity. Poor axonal growth and fasciculation is observed in animal models deficient fo...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.11.004

    authors： Petit F,Plessis G,Decamp M,Cuisset JM,Blyth M,Pendlebury M,Andrieux J

    更新日期：2015-01-01 00:00:00

  • Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients.

    abstract：:Alexander disease (AxD), a fatal degenerative leukoencephalopathy, is caused by de novo heterozygous missense mutations in the Glial Fibrillary Acidic Protein (GFAP) gene. The pathological hallmark of the disease is the presence of Rosenthal fibers, cytoplasmic inclusions in astrocytes, composed mainly of GFAP, αB-cry...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2015.07.002

    authors： Ferreira MC,Dorboz I,Rodriguez D,Boespflug Tanguy O

    更新日期：2015-09-01 00:00:00

  • The impact of exome sequencing on the diagnostic yield of muscular dystrophies in consanguineous families.

    abstract：:Muscular dystrophies (MDs) are a heterogeneous group of inherited disorders that are characterized by progressive skeletal muscle weakness and dystrophic changes on muscle biopsy. The broad genetic and clinical heterogeneity of MDs make the accurate diagnosis difficult via conventional approaches. This study investiga...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.103845

    authors： Dardas Z,Swedan S,Al-Sheikh Qassem A,Azab B

    更新日期：2020-04-01 00:00:00

  • A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia.

    abstract：:"Disorganized Development of Skeletal Component" (DDSC) is a group of genetic skeletal dysplasia, caused by mutations in 9 genes including ACVR1. The most known ACVR1-related disorder is fibrodysplasia ossificans progressiva (FOP). FOP variants are frequently encountered with diagnostic challenges due to overlapping c...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.05.007

    authors： Rafati M,Mohamadhashem F,Hoseini A,Hoseininasab F,Ghaffari SR

    更新日期：2016-06-01 00:00:00

  • SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.

    abstract：:Anophthalmia (A) and microphthalmia (M) are rare developmental anomalies that have significant effects on visual activity. In fraction of A/M subjects, single genetic defects have been identified as causative. In this study we analysed 65 Italian A/M patients, 21 of whom are syndromic, for mutations in SOX2, OTX2 and ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.12.005

    authors： Mauri L,Franzoni A,Scarcello M,Sala S,Garavelli L,Modugno A,Grammatico P,Patrosso MC,Piozzi E,Del Longo A,Gesu GP,Manfredini E,Primignani P,Damante G,Penco S

    更新日期：2015-02-01 00:00:00

  • Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly.

    abstract：:Synpolydactyly (SPD) is an autosomal dominant limb malformation caused by mutations in the gene HOXD13. We investigated a Chinese family in which three individuals across three generations were affected with distinctive limb malformations. We extracted genomic DNA from the affected and three unaffected individuals fro...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.10.007

    authors： Gong L,Wang B,Wang J,Yu H,Ma X,Yang J

    更新日期：2011-03-01 00:00:00