Inv dup (15) with mental retardation but few dysmorphic features.

abstract：BACKGROUND:Orofacial cleft (OFC) is the most prevalent craniofacial birth defect. Genes involved in one-carbon, folate and vitamin B12 metabolisms have been associated with OFC but no study performed a concomitant assessment on genes involved in these three pathways. OBJECTIVE:We looked for potential genetic variants ...

journal_title：Journal of medical genetics

authors： Goffinet L,Oussalah A,Guéant-Rodriguez RM,Chery C,Basha M,Avogbe PH,Josse T,Jeannesson E,Rouyer P,Flayac J,Gerard P,Le Touze A,Bonin-Goga B,Goga D,Simon E,Feillet F,Vikkula M,Guéant JL

更新日期：2016-12-01 00:00:00

abstract：:Placental lead levels were studied in a series of Birmingham births classified by stillbirth, neonatal death, or survival beyond one week. There was an appreciable range of lead levels even in normal births (0.15-3.56 microgram/g) but nevertheless average results showed a pronounced excess of lead in those who failed ...

journal_title：Journal of medical genetics

authors： Wibberley DG,Khera AK,Edwards JH,Rushton DI

更新日期：1977-10-01 00:00:00

abstract：BACKGROUND:Bardet-Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9 form a complex called the BBSome, which is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The second group, the chaperonin-like proteins BBS6, BBS10, and B...

journal_title：Journal of medical genetics

authors： Billingsley G,Bin J,Fieggen KJ,Duncan JL,Gerth C,Ogata K,Wodak SS,Traboulsi EI,Fishman GA,Paterson A,Chitayat D,Knueppel T,Millán JM,Mitchell GA,Deveault C,Héon E

更新日期：2010-07-01 00:00:00

abstract：:A patient with a typical Down syndrome (DS) phenotype and a normal karyotype was studied by FISH. Using painting probes, we found that the patient had partial trisomy of chromosome 21 owing to an unbalanced translocation t(15;21) (q26; q22.1) of paternal origin. To correlate genotype with phenotype as accurately as po...

journal_title：Journal of medical genetics

authors： Nadal M,Moreno S,Pritchard M,Preciado MA,Estivill X,Ramos-Arroyo MA

更新日期：1997-01-01 00:00:00

abstract：:A female infant with thanatophoric dysplasia was found to have a de novo translocation involving chromosomes 1 and 10. The chromosome abnormality may represent an important clue in identifying the locus for the candidate gene responsible for this lethal skeletal dysplasia. ...

journal_title：Journal of medical genetics

authors： Hersh JH,Yen FF,Peiper SC,Barch MJ,Yacoub OA,Voss DH,Roberts JL

更新日期：1995-04-01 00:00:00

abstract：:As a result of the increasing use of genome wide telomere screening, it has become evident that a significant proportion of people with idiopathic mental retardation have subtle abnormalities involving the telomeres of human chromosomes. However, during the course of these studies, there have also been telomeric imbal...

journal_title：Journal of medical genetics

authors： Martin CL,Waggoner DJ,Wong A,Uhrig S,Roseberry JA,Hedrick JF,Pack SD,Russell K,Zackai E,Dobyns WB,Ledbetter DH

更新日期：2002-10-01 00:00:00

abstract：:Parkinson's disease (PD) is a complex and heterogeneous neurological condition characterised mainly by bradykinesia, resting tremor, rigidity and postural instability, symptoms that together comprise the parkinsonian syndrome. Non-motor symptoms preceding and following clinical onset are also helpful diagnostic marker...

journal_title：Journal of medical genetics

authors： Zhang PL,Chen Y,Zhang CH,Wang YX,Fernandez-Funez P

更新日期：2018-02-01 00:00:00

abstract：BACKGROUND:Because the mitochondrial respiratory chain (RC) is ubiquitous, its deficiency can theoretically give rise to any symptom in any organ or tissue at any age with any mode of inheritance, owing to the twofold genetic origin of respiratory enzyme machinery, that is, nuclear and mitochondrial. Not all respirator...

journal_title：Journal of medical genetics

authors： de Beaurepaire I,Grévent D,Rio M,Desguerre I,de Lonlay P,Levy R,Dangouloff-Ros V,Bonnefont JP,Barcia G,Funalot B,Besmond C,Metodiev MD,Ruzzenente B,Assouline Z,Munnich A,Rötig A,Boddaert N

更新日期：2018-06-01 00:00:00

abstract：:The BglII polymorphism near the constant region of the T cell receptor beta chain (TCR c beta) has been investigated in normal controls, patients with cystic fibrosis (CF), and CF carriers. A significant increase was found in the frequency of the 10.0:9.2 kb heterozygous genotype in the CF carrier group (71%) as compa...

journal_title：Journal of medical genetics

authors： McMillan SA,Hill AJ,Graham CA,Nevin NC,Fay AC

更新日期：1989-07-01 00:00:00

abstract：:Generalised recessive dystrophic epidermolysis bullosa (EB) is a severe inherited disease in which patients suffer from blistering and scarring of the skin and mucous membranes after minor mechanical trauma. Tight genetic linkage has been established to the type VII collagen gene (COL7A1) at 3p21, with no evidence of ...

journal_title：Journal of medical genetics

authors： Dunnill MG,Rodeck CH,Richards AJ,Atherton D,Lake BD,Petrou M,Eady RA,Pope FM

更新日期：1995-09-01 00:00:00

abstract：:We describe a patient with developmental delay, mild dysmorphic features, and monosomy of 7q35. Only one other patient with an interstitial deletion of this band has been previously reported. A review of clinical features of these two children did not show similarities in dysmorphic features. Reports of patients with ...

journal_title：Journal of medical genetics

authors： Fagan K,Kennedy C,Roddick L,Colley A

更新日期：1994-09-01 00:00:00

abstract：:We report concordant male monozygotic twins with congenital short femur (proximal focal femoral deficiency) and discuss the aetiological implications. Coincidentally, they and their father have benign familial macrocephaly. ...

journal_title：Journal of medical genetics

authors： Connor JM,Rae PS,Connor RA

更新日期：1986-08-01 00:00:00

abstract：BACKGROUND:Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and c...

journal_title：Journal of medical genetics

authors： Molin AM,Andrieux J,Koolen DA,Malan V,Carella M,Colleaux L,Cormier-Daire V,David A,de Leeuw N,Delobel B,Duban-Bedu B,Fischetto R,Flinter F,Kjaergaard S,Kok F,Krepischi AC,Le Caignec C,Ogilvie CM,Maia S,Mathieu-Drama

更新日期：2012-02-01 00:00:00

abstract：:We have reviewed all known UK cases of Smith-Lemli-Opitz syndrome. Among 49 cases with proven 7-dehydrocholesterol reductase deficiency, half had been terminated or had died in infancy. The minimum incidence is 1 in 60,000. The frequent occurrence of hypospadias may account for 71% of recognised cases being male. Impo...

journal_title：Journal of medical genetics

authors： Ryan AK,Bartlett K,Clayton P,Eaton S,Mills L,Donnai D,Winter RM,Burn J

更新日期：1998-07-01 00:00:00

abstract：:A 3-month-old male infant with type I Klein-Waardenburg syndrome with an imperforated anus and a perineal fistula is reported. The possible association of this gastrointestinal malformation with the KW syndrome is discussed. ...

journal_title：Journal of medical genetics

authors： Nutman J,Nissenkorn I,Varsano I,Mimouni M,Goodman RM

更新日期：1981-06-01 00:00:00

abstract：BACKGROUND:Heart-hand syndromes are a heterogeneous group of genetic disorders characterised by the association of congenital cardiac disease and limb deformities. Laminopathies are a group of diseases caused by mutations in the LMNA gene encoding A-type lamins. RESULTS:We report a new LMNA mutation (c.1609-12T>G, IVS...

journal_title：Journal of medical genetics

authors： Renou L,Stora S,Yaou RB,Volk M,Sinkovec M,Demay L,Richard P,Peterlin B,Bonne G

更新日期：2008-10-01 00:00:00

abstract：:Congenital heart defects are a major congenital abnormality and are assuming increasing importance. A study was undertaken to estimate the incidence of congenital heart defects in Northern Ireland over a five year period (1974-1978), to determine the age at diagnosis and to assess the risk of recurrence in sibs. An in...

journal_title：Journal of medical genetics

authors： Hanna EJ,Nevin NC,Nelson J

更新日期：1994-11-01 00:00:00

abstract：:The rare bone thickening disease osteopetrosis occurs in various forms, one of which is accompanied by renal tubular acidosis (RTA), and is known as Guibaud-Vainsel syndrome or marble brain disease. Clinical manifestations of this autosomal recessive syndrome comprise increased bone density, growth failure, intracereb...

journal_title：Journal of medical genetics

authors： Borthwick KJ,Kandemir N,Topaloglu R,Kornak U,Bakkaloglu A,Yordam N,Ozen S,Mocan H,Shah GN,Sly WS,Karet FE

更新日期：2003-02-01 00:00:00

abstract：:A family is reported which a diabetic woman gave birth to two children with the caudal regression anomalad (CRA). There were no obvious genetic factors. This is the first reported familial case of CRA with maternal diabetes. ...

journal_title：Journal of medical genetics

authors： Stewart JM,Stoll S

更新日期：1979-02-01 00:00:00

abstract：BACKGROUND:A variety of abnormalities have been demonstrated at chromosome 11p15 in individuals with overgrowth and growth retardation. The identification of these abnormalities is clinically important but often technically difficult. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is a ...

journal_title：Journal of medical genetics

authors： Scott RH,Douglas J,Baskcomb L,Nygren AO,Birch JM,Cole TR,Cormier-Daire V,Eastwood DM,Garcia-Minaur S,Lupunzina P,Tatton-Brown K,Bliek J,Maher ER,Rahman N

更新日期：2008-02-01 00:00:00

abstract：BACKGROUND:Clinical evaluation of CNVs identified via techniques such as array comparative genome hybridisation (aCGH) involves the inspection of lists of known and unknown duplications and deletions with the goal of distinguishing pathogenic from benign CNVs. A key step in this process is the comparison of the individ...

journal_title：Journal of medical genetics

authors： Köhler S,Schoeneberg U,Czeschik JC,Doelken SC,Hehir-Kwa JY,Ibn-Salem J,Mungall CJ,Smedley D,Haendel MA,Robinson PN

更新日期：2014-11-01 00:00:00

abstract：BACKGROUND:Birt-Hogg-Dubé syndrome (BHDS) is an inherited autosomal genodermatosis characterised by fibrofolliculomas of the skin, renal tumours and multiple lung cysts. Genetic studies have disclosed that the clinical picture as well as responsible germline FLCN mutations are diverse. OBJECTIVES:BHDS may be caused by...

journal_title：Journal of medical genetics

authors： Kunogi M,Kurihara M,Ikegami TS,Kobayashi T,Shindo N,Kumasaka T,Gunji Y,Kikkawa M,Iwakami S,Hino O,Takahashi K,Seyama K

更新日期：2010-04-01 00:00:00

abstract：:The development of some endocrine tumours, such as medullary thyroid carcinomas, phaeochromocytomas, anterior pituitary adenomas, and parathyroid adenomas involve a putative tumour suppressor gene located on chromosome 1p32-pter, a region that represents 111 cM. In order to refine the location of this gene, 93 endocri...

journal_title：Journal of medical genetics

authors： Williamson C,Pannett AA,Pang JT,Wooding C,McCarthy M,Sheppard MN,Monson J,Clayton RN,Thakker RV

更新日期：1997-08-01 00:00:00

abstract：:A 6-year-old boy with speech delay and mild mental retardation (IQ 82) was found to have a complex double translocation involving four chromosomes and a total of five breakpoints, two being on the same arm. This resulted in the karyotype 46,XY,t(2;4;7)(7;8)(q14;q31;q11q22;q13). As far as the authors are aware this is ...

journal_title：Journal of medical genetics

authors： Couzin DA,Watt JL,Auchterlonie IA

更新日期：1983-10-01 00:00:00

abstract：BACKGROUND:The non-POU domain containing octamer-binding gene (NONO) is located on chromosome Xq13.1 and encodes a member of a small family of RNA-binding and DNA-binding proteins that perform a variety of tasks involved in RNA synthesis, transcriptional regulation and DNA repair. Loss-of-function variants in NONO have...

journal_title：Journal of medical genetics

authors： Scott DA,Hernandez-Garcia A,Azamian MS,Jordan VK,Kim BJ,Starkovich M,Zhang J,Wong LJ,Darilek SA,Breman AM,Yang Y,Lupski JR,Jiwani AK,Das B,Lalani SR,Iglesias AD,Rosenfeld JA,Xia F

更新日期：2017-01-01 00:00:00

abstract：:Desbuquois dysplasia is a rare autosomal recessive chondrodysplasia characterised by short stature, joint laxity, facial dysmorphism, a "Swedish key" appearance of the proximal femur, advanced carpal and tarsal bone age, and hand anomalies consisting of phalangeal dislocations and an extra ossification centre distal t...

journal_title：Journal of medical genetics

authors： Faivre L,Le Merrer M,Al-Gazali LI,Ausems MG,Bitoun P,Bacq D,Maroteaux P,Munnich A,Cormier-Daire V

更新日期：2003-04-01 00:00:00

abstract：BACKGROUND:Non-syndromic isolated cleft lip with or without cleft palate (NCL/P) is a common congenital anomaly in humans, the aetiology of which is complex and associated with both genetic and environmental factors. It has been reported that maternal nutritional factors are likely to play a major role in development o...

journal_title：Journal of medical genetics

authors： Mostowska A,Hozyasz KK,Wojcicki P,Dziegelewska M,Jagodzinski PP

更新日期：2010-12-01 00:00:00

abstract：BACKGROUND:Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Due to the various manifestations of TSC and their potential complications, a multidisciplinary care approach is recommended by consensus guidelines. OBJECTIVES:Our study aimed to give a complete description of our TSC adult coh...

journal_title：Journal of medical genetics

authors： Pfirmann P,Aupy J,Jambon E,Idier L,Prezelin-Reydit M,Fermis M,Devillard R,Grenier N,Combe C,Rigothier C

更新日期：2021-01-01 00:00:00

abstract：:Chromosome analysis of an infant with characteristic features of trisomy 18 is presented. The chromosome complement contained a modal count of 47 but there was only one No. 18. In addition, there were two metacentric chromosomes of different sizes. The two metacentric chromosomes were identified by G- and C-banding to...

journal_title：Journal of medical genetics

authors： Larson LM,Wasdahl WA,Saumur JH,Coleman ML,Jalal SM

更新日期：1978-02-01 00:00:00

abstract：:Usher syndrome type I is an autosomal recessive disease characterised by congenital sensorineural deafness, involvement of the vestibular system, and progressive visual loss owing to retinitis pigmentosa. Here we report the association of this disease with bronchiectasis, chronic sinusitis, and reduced nasal mucocilia...

journal_title：Journal of medical genetics

authors： Bonneau D,Raymond F,Kremer C,Klossek JM,Kaplan J,Patte F

更新日期：1993-03-01 00:00:00