当前位置： SCI文献检索 > European Journal of Medical Genetics期刊下所有文献 > Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter.

Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter.

Abstract：

:We report on an 8(1)/(2)-year-old girl with severe pre- and postnatal growth retardation, congenital heart malformation, facial asymmetry, oculocutaneous albinism without misrouting and subluxation of the radial heads. Her intelligence was in the low normal range. By GTG-banding a deletion of band 15q26 was found. Array-CGH, using a 3783 BAC array, revealed a segmental monosomy of the 15(q26.2-->qter) region, which was narrowed down to a 6.87Mb deletion by using the Illumina Infinium 317 K SNP array system, and subsequently confirmed by fluorescence in situ hybridisation (FISH) analysis. The deletion appeared to have arisen de novo. The IGF1R (insulin-like growth factor 1 receptor) and the NR2F2 genes were situated within, but the OCA2 (oculocutaneous albinism II) gene (formerly called the P gene) was located outside the deleted region. Clinical findings in our patient were compared with previously reported cases carrying terminal deletions of 15q26.2. This allowed us to expand the clinical phenotype of terminal 15q26.2 deletions and to indicate candidate genes for several phenotypic features.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Poot M,Eleveld MJ,van 't Slot R,van Genderen MM,Verrijn Stuart AA,Hochstenbach R,Beemer FA

doi

10.1016/j.ejmg.2007.08.003

subject

Has Abstract

pub_date

2007-11-01 00:00:00

pages

432-40

issue

6

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(07)00082-1

journal_volume

50

pub_type

杂志文章

相关文献

European Journal of Medical Genetics文献大全
  • Current perspectives on the etiology of agnathia-otocephaly.

    abstract：:Agnathia-otocephaly, a rare, sporadic and lethal malformation, is characterized by microstomia (small mouth), aglossia (absence of the tongue), agnathia (absence of the lower jaw) and abnormally positioned ears. It is a principal anomaly derived from the first pharyngeal arch as a consequence of failed mesenchymal mig...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2010.09.002

    authors： Gekas J,Li B,Kamnasaran D

    更新日期：2010-11-01 00:00:00

  • Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype.

    abstract：:Snyder-Robinson syndrome (OMIM #309583) is a rare X-linked condition, caused by mutation in the SMS gene (MIM *300105), characterized by a wide spectrum of clinical signs including developmental delay, epilepsy, asthenic habitus, dysmorphism, osteopenia, and renal or genital anomalies. Here we describe two maternal ha...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.104097

    authors： Dontaine P,Kottos E,Dassonville M,Balasel O,Catros V,Soblet J,Perlot P,Vilain C

    更新日期：2021-01-01 00:00:00

  • Enteric anendocrinosis attributable to a novel Neurogenin-3 variant.

    abstract：:Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that often present with severe diarrhea in the first weeks of life. Enteric anendocrinosis (EA), an extremely rare cause of CODE, is characterized by a marked reduction of intestinal enteroendocrine cells (EC). EA is associated with reces...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.103981

    authors： Azab B,Dardas Z,Rabab'h O,Srour L,Telfah H,Hatmal MM,Mustafa L,Rashdan L,Altamimi E

    更新日期：2020-09-01 00:00:00

  • A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy.

    abstract：:An increasing number of developmental and epileptic encephalopathies have been correlated with variants of ion channel genes, and in particular of potassium channels genes, such as KCNA1, KCNA2, KCNB1, KCNQ2, KCTD7 and KCNT1. Here we report a child with an early severe developmental and epileptic encephalopathy, spast...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.103848

    authors： Vetri L,Calì F,Vinci M,Amato C,Roccella M,Granata T,Freri E,Solazzi R,Romano V,Elia M

    更新日期：2020-04-01 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

  • Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.

    abstract：BACKGROUND:Recently, biallelic mutations in the Neuroblastoma Amplified Sequence NBAS gene have been identified in ten patients that present recurrent acute liver failure (RALF) in early infancy. In addition to severe liver dysfunction, some of these individuals also suffered from other comorbidities including cardiomy...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2015.11.005

    authors： Capo-Chichi JM,Mehawej C,Delague V,Caillaud C,Khneisser I,Hamdan FF,Michaud JL,Kibar Z,Mégarbané A

    更新日期：2015-12-01 00:00:00

  • Could FISH on buccal smears become a new method of screening in children suspect of HNF1B anomaly?

    abstract：:HNF1B gene anomalies include renal development defects associated with cysts and are well known by pediatric nephrologists that ask for molecular analysis of this gene. Two types of genomic rearrangements are reported: mutation and more frequently deletion. Using microsatellites or CGH array the size of the deletion w...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2012.12.002

    authors： Laffargue F,Bourthoumieu S,Bellanné-Chantelot C,Guigonis V,Yardin C

    更新日期：2013-02-01 00:00:00

  • A novel NR2F2 loss-of-function mutation predisposes to congenital heart defect.

    abstract：:Congenital heart defect (CHD) is the most common type of birth defect in humans and a leading cause of infant morbidity and mortality. Previous studies have demonstrated that genetic defects play a pivotal role in the pathogenesis of CHD. However, the genetic basis of CHD remains poorly understood due to substantial g...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.12.003

    authors： Qiao XH,Wang Q,Wang J,Liu XY,Xu YJ,Huang RT,Xue S,Li YJ,Zhang M,Qu XK,Li RG,Qiu XB,Yang YQ

    更新日期：2018-04-01 00:00:00

  • Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12.

    abstract：:We report on a patient with mental retardation, seizures and tall stature with advanced bone age in whom a de novo apparently balanced chromosomal rearrangement 46,XX,t(X;9)(q12;p13.3) was identified. Using array CGH on flow-sorted derivative chromosomes (array painting) and subsequent FISH and qPCR analysis, we mappe...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.07.003

    authors： Menten B,Buysse K,Vermeulen S,Meersschaut V,Vandesompele J,Ng BL,Carter NP,Mortier GR,Speleman F

    更新日期：2007-11-01 00:00:00

  • Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

    abstract：:Wiedemann-Steiner syndrome (WDSTS) is a very rare genetic disorder characterized by short stature, intellectual disability and distinctive facial appearance. We present a five-year-old boy who was diagnosed with WDSTS based on identification of a novel de novo pathogenic variant in the KMT2A gene (OMIM: 159555) by Who...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2017.03.006

    authors： Aggarwal A,Rodriguez-Buritica DF,Northrup H

    更新日期：2017-06-01 00:00:00

  • CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.

    abstract：:Genetic conditions comprise a wide spectrum of different phenotypes, rapidly expanding due to new diagnostic methodologies. Patients' facial features and clinical history represent the key elements leading clinicians to the right diagnosis. CDKL5-early onset epilepsy and Pitt-Hopkins syndrome are two well-known geneti...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.104102

    authors： Currò A,Doddato G,Bruttini M,Zollino M,Marangi G,Zappella M,Renieri A,Pinto AM

    更新日期：2021-01-01 00:00:00

  • Genetic polymorphisms in the DNA repair gene, XRCC1 associate with non-Hodgkin lymphoma susceptibility: A systematic review and meta-analysis.

    abstract：:A DNA repair protein, X-ray repair cross-complementing group 1 (XRCC1), has been implicated in the development of multiple cancers, including non-Hodgkin lymphoma (NHL). Recent studies evaluating the association between XRCC1 polymorphisms and NHL risk have been published. However, the published studies are controvers...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,meta分析,评审

    doi：10.1016/j.ejmg.2015.12.011

    authors： Li Y,Bai O,Cui J,Li W

    更新日期：2016-02-01 00:00:00

  • New ocular finding in Baraitser-Winter syndrome (BWS).

    abstract：:Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016). The phenotypic spectrum has since broadened to include other facial dysmorphic features, deafness, microcephaly, lissencephaly, and CNS findings (Bar...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.10.006

    authors： Rall N,Leon A,Gomez R,Daroca J,Lacassie Y

    更新日期：2018-01-01 00:00:00

  • RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability.

    abstract：:Copy number variants represent an important cause of neurodevelopmental disorders including epilepsy, which is genetically determined in 40% of cases. Epilepsy is caused by chromosomal imbalances or mutations in genes encoding subunits of neuronal voltage- or ligand-gated ion channels or proteins related to neuronal m...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2013.12.001

    authors： Baglietto MG,Caridi G,Gimelli G,Mancardi M,Prato G,Ronchetto P,Cuoco C,Tassano E

    更新日期：2014-01-01 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

  • 7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

    abstract：:There are no published reports of patients harboring microdeletions involving the 7p22.1 region. Although 7p22.1 microdeletions are rare, some reports have shown microduplications encompassing this region. In this study, we report five patients with overlapping deletions of the 7p22.1 region. The patients exhibited cl...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.09.008

    authors： Shimojima K,Narai S,Togawa M,Doumoto T,Sangu N,Vanakker OM,de Paepe A,Edwards M,Whitehall J,Brescianini S,Petit F,Andrieux J,Yamamoto T

    更新日期：2016-10-01 00:00:00

  • Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.

    abstract：:Deletions of the short arm of chromosome 2 are exceedingly rare and only nine cases involving regions from 2p23 to 2pter have been reported to date. Most of these deletions had only been analysed by GTG banding. Here, we report an interstitial de novo deletion resulting in a microdeletion of 3.9 Mb involving 2p23.2-p2...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2012.10.008

    authors： Rocca MS,Faletra F,Devescovi R,Gasparini P,Pecile V

    更新日期：2013-01-01 00:00:00

  • Targeted carrier screening for four recessive disorders: high detection rate within a founder population.

    abstract：:In a genetically isolated community in the Netherlands four severe recessive genetic disorders occur at relatively high frequency (pontocerebellar hypoplasia type 2 (PCH2), fetal akinesia deformation sequence (FADS), rhizomelic chondrodysplasia punctata type 1 (RCDP1), and osteogenesis imperfecta (OI) type IIB/III. Ov...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2015.01.004

    authors： Mathijssen IB,Henneman L,van Eeten-Nijman JM,Lakeman P,Ottenheim CP,Redeker EJ,Ottenhof W,Meijers-Heijboer H,van Maarle MC

    更新日期：2015-03-01 00:00:00

  • A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing.

    abstract：:Whole genome sequencing (WGS) holds the potential to identify pathogenic gene mutations, copy number variation, uniparental disomy and structural rearrangements in a single genetic test. With its high diagnostic yield and decreasing costs, the question arises whether WGS can serve as a single test for all referrals to...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.09.010

    authors： Hochstenbach R,van Binsbergen E,Schuring-Blom H,Buijs A,Ploos van Amstel HK

    更新日期：2019-09-01 00:00:00

  • The prevalence of major congenital malformations during two periods of time, 1986-1994 and 1995-2002 in newborns conceived by assisted reproduction technology.

    abstract：:Evidence has emerged that assisted reproduction technology (ART) may be associated with an increased risk of congenital malformations, low birth weight, and genetic imprinting disorders. The aim of the study was to determine, the prevalence of major malformations in newborns conceived by standard in vitro fertilizatio...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2005.01.019

    authors： Merlob P,Sapir O,Sulkes J,Fisch B

    更新日期：2005-01-01 00:00:00

  • Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.

    abstract：:Coffine-Siris syndrome or "fifth digit" syndrome is a multiple congenital anomaly-mental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. The etiology of this syndrome remains uncertain. Here we report a stillbor...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.07.005

    authors： Coulibaly B,Sigaudy S,Girard N,Popovici C,Missirian C,Heckenroth H,Tasei AM,Fernandez C

    更新日期：2010-09-01 00:00:00

  • Ipsilateral foot and contralateral hand anomalies in a patient with Poland-Moebius syndrome.

    abstract：:This report describes a patient who had bilateral facial nerve paralysis, external ophthalmoplegia, absence of pectoralis major muscle at right side, ipsilateral hand and foot, and contralateral hand anomalies. To our knowledge, this is the first patient with Poland syndrome reported in combination with Moebius syndro...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2005.01.022

    authors： Cetin II,Aktaş D,Tunçbilek E

    更新日期：2005-04-01 00:00:00

  • Clinical and molecular cytogenetic studies in ring chromosome 5: report of a child with congenital abnormalities.

    abstract：:We report here a child with a ring chromosome 5 (r(5)) associated with facial dysmorphology and multiple congenital abnormalities. Fluorescent in situ hybridization (FISH) using bacterial artificial chromosome (BAC) clones was performed to determine the breakpoints involved in the r(5). The 5p deletion extended from 5...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.11.005

    authors： Basinko A,Giovannucci Uzielli ML,Scarselli G,Priolo M,Timpani G,De Braekeleer M

    更新日期：2012-02-01 00:00:00

  • Identification of a novel CTR9 germline mutation in a family with Wilms tumor.

    abstract：:Germline mutations in the WT1 gene have been identified in some families with Wilms tumor. Recently, the CTR9 gene was found to be mutated in three families with Wilms tumor, thus representing a novel predisposition gene for this disease. We identified a family with a history of Wilms tumor characterized by three affe...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.12.010

    authors： Martins AG,Pinto AT,Domingues R,Cavaco BM

    更新日期：2018-05-01 00:00:00

  • Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation.

    abstract：:Mosaicism involving a normal cell line and an unbalanced autosomal translocation are rare. In this study we present three new cases with such a mosaicism, which were detected by Single Nucleotide Polymorphism (SNP) array analysis in our routine diagnostic setting. These cases were further characterized using Fluoresce...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.05.002

    authors： Gijsbers AC,Dauwerse JG,Bosch CA,Boon EM,van den Ende W,Kant SG,Hansson KM,Breuning MH,Bakker E,Ruivenkamp CA

    更新日期：2011-07-01 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

  • Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

    abstract：:Mutations in WDR45 are responsible for beta-propeller protein-associated neurodegeneration (BPAN), which is an X-linked form of neurodegeneration with brain iron accumulation. BPAN mainly affects females and is characterized by seizures and developmental delay or intellectual disability until adolescence or early adul...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.07.008

    authors： Takano K,Goto K,Motobayashi M,Wakui K,Kawamura R,Yamaguchi T,Fukushima Y,Kosho T

    更新日期：2017-10-01 00:00:00

  • Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome.

    abstract：:Say-Meyer syndrome is a rare and clinically heterogeneous syndrome characterized by trigonocephaly, short stature, developmental delay and hypotelorism. Nine patients with this syndrome have been reported thus far although no causative gene has yet been identified. Here, we report two siblings with clinical phenotypes...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.02.007

    authors： Muthusamy B,Nguyen TT,Bandari AK,Basheer S,Selvan LDN,Chandel D,Manoj J,Gayen S,Seshagiri S,Chandra Girimaji S,Pandey A

    更新日期：2020-01-01 00:00:00

  • Narrowing the deleted region associated with the 15q21 syndrome.

    abstract：:Interstitial deletions of chromosome 15q, not involving the PWS/AS region, are uncommon and poorly characterized. Few cases defined at the cytogenetic level have been reported with 15q21 deletions and characteristic facial dysmorphisms are present in all them. We report on the molecular characterization by array-CGH o...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2005.04.012

    authors： Pramparo T,Mattina T,Gimelli S,Liehr T,Zuffardi O

    更新日期：2005-07-01 00:00:00

  • De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis.

    abstract：:We report a female patient with a complex phenotype consisting of failure to thrive, developmental delay, congenital bronchiectasis, gastroesophageal reflux and bilateral inguinal hernias. Chromosomal microarray analysis revealed a 230 kilobase deletion in chromosomal region 17q21.32 (arr[hg19] 17q21.32(46 550 362-46 ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2015.04.002

    authors： Pajusalu S,Reimand T,Uibo O,Vasar M,Talvik I,Zilina O,Tammur P,Õunap K

    更新日期：2015-06-01 00:00:00