Dilemmas in counselling: the EEC syndrome.

abstract：:Mutations in the 12S rRNA gene of the mitochondrial genome are responsible for maternally inherited non-syndromic hearing loss (NSHL), and for increased susceptibility to the ototoxicity of aminoglycoside antibiotics. Among these mutations, 1555A-->G is the most prevalent in all populations tested so far. Recently, th...

journal_title：Journal of medical genetics

authors： Rodríguez-Ballesteros M,Olarte M,Aguirre LA,Galán F,Galán R,Vallejo LA,Navas C,Villamar M,Moreno-Pelayo MA,Moreno F,del Castillo I

更新日期：2006-11-01 00:00:00

abstract：:Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this...

journal_title：Journal of medical genetics

authors： Begeer JH,Scholte FA,van Essen AJ

更新日期：1991-12-01 00:00:00

abstract：:Two patients with partial monosomy of the short arm of chromosome 8 are described. Their clinical features were very similar. Comparison with previously reported patients confirms the existence of an 8p- syndrome. The importance of cytogenetic investigations in all infants with major congenital heart defect and facial...

journal_title：Journal of medical genetics

authors： Bröcker-Vriends AH,Mooij PD,van Bel F,Beverstock GC,van de Kamp JJ

更新日期：1986-04-01 00:00:00

abstract：BACKGROUND:Chromosome 13q deletion is associated with varying phenotypes, which seem to depend on the location of the deleted segment. Although various attempts have been made to link the 13q deletion intervals to distinct phenotypes, there is still no acknowledged consensus correlation between the monosomy of distinct...

journal_title：Journal of medical genetics

authors： Ballarati L,Rossi E,Bonati MT,Gimelli S,Maraschio P,Finelli P,Giglio S,Lapi E,Bedeschi MF,Guerneri S,Arrigo G,Patricelli MG,Mattina T,Guzzardi O,Pecile V,Police A,Scarano G,Larizza L,Zuffardi O,Giardino D

更新日期：2007-01-01 00:00:00

abstract：AIM:To determine whether, following predictive genetic testing for familial adenomatous polyposis (FAP), children or adults receiving positive results experience clinically significant levels of anxiety or depression, and whether children receiving positive results experience higher levels of anxiety or depression than...

journal_title：Journal of medical genetics

authors： Michie S,Bobrow M,Marteau TM

更新日期：2001-08-01 00:00:00

abstract：:The features of a child with Ehlers-Danlos syndrome type IV (EDS IV) resulting from a mutation in one COL3A1 allele were studied. The child was heterozygous for a G- to A-transition at the splice donor site of intron 41. It resulted in the splicing out of the exon 41 encoded sequence from alpha 1(III) mRNA and the del...

journal_title：Journal of medical genetics

authors： Sillence DO,Chiodo AA,Campbell PE,Cole WG

更新日期：1991-12-01 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：:Neurofibromatosis and myotonic dystrophy have occurred in ten members of a nonconsanguineous family with a high degree of concordance. The expression of neurofibromatosis is peripheral, and the expression of myotonic dystrophy has produced at least moderately severe disability. Neither disease has appeared to alter th...

journal_title：Journal of medical genetics

authors： Ichikawa K,Crosley CJ,Culebras A,Weitkamp L

更新日期：1981-04-01 00:00:00

abstract：:The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients...

journal_title：Journal of medical genetics

authors： Kelley RI,Hennekam RC

更新日期：2000-05-01 00:00:00

abstract：BACKGROUND:Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Most deleterious variants are loss of function mutations in one of the three CCM genes. These genes code for proteins that form a ternary cytosolic complex with CCM2 as a hub. Very few CCM2 mi...

journal_title：Journal of medical genetics

authors： Bergametti F,Viot G,Verny C,Brechard MP,Denier C,Labauge P,Petit P,Nouet A,Viallet F,Chaussenot A,Hervé D,Tournier-Lasserve E,Riant F

更新日期：2020-06-01 00:00:00

abstract：:Sorsby fundus dystrophy is an autosomal dominant disorder which both clinically and histopathologically bears striking similarities to age related macular degeneration, one of the leading causes of blindness in the developed world. Recent studies have suggested a genetic localisation of the disease to chromosome 22q i...

journal_title：Journal of medical genetics

authors： Gregory CY,Wijesuriya S,Evans K,Jay M,Bird AC,Bhattacharya SS

更新日期：1995-03-01 00:00:00

abstract：:Batten disease is the most common progressive neurodegenerative disorder of childhood in western countries. A novel cDNA responsible for Batten disease has recently been identified. We have developed a rapid diagnostic solid phase minisequencing test to detect the major 1.02 kb deletion which is responsible for 81% of...

journal_title：Journal of medical genetics

authors： Järvelä I,Mitchison HM,Munroe PB,O'Rawe AM,Mole SE,Syvänen AC

更新日期：1996-12-01 00:00:00

abstract：:A unique connective tissue disorder characterised by the triad of dentinogenesis imperfecta, blue sclerae, and multiple wormian bones has been identified in 20 members of three generations of a large kindred of mixed ancestry in South Africa. The skeletons of affected subjects were moderately osteoporotic but, apart f...

journal_title：Journal of medical genetics

authors： Beighton P

更新日期：1981-04-01 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 high prevalence of tobacco use in some developing nations, including Bangladesh, poses several public health challenges for these populations. Smoking behaviour is determined by genetic and environmental factors; however, the genetic determinants of smoking behaviour have not been previously examined in ...

journal_title：Journal of medical genetics

authors： Argos M,Tong L,Pierce BL,Rakibuz-Zaman M,Ahmed A,Islam T,Rahman M,Paul-Brutus R,Rahaman R,Roy S,Jasmine F,Kibriya MG,Ahsan H

更新日期：2014-05-01 00:00:00

abstract：:The FKHL7 gene has been implicated in the pathogenesis of glaucoma/autosomal dominant iridogoniodysgenesis (IGDA) (IRID1). This has been supported by mutations in some glaucoma and IGDA patients and the development of anterior eye chamber anomalies in patients with 6p deletions affecting the 6p25 region. We report a c...

journal_title：Journal of medical genetics

authors： Davies AF,Mirza G,Flinter F,Ragoussis J

更新日期：1999-09-01 00:00:00

abstract：:We describe a patient with the unusual association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. This association has been reported before in two brothers and may represent a new syndrome. ...

journal_title：Journal of medical genetics

authors： Buntincx IM,Van Overmeire B,Desager K,Van Hauwaert J

更新日期：1993-05-01 00:00:00

abstract：BACKGROUND:Sonic hedgehog (SHH) plays an important role in defining the anterior-posterior axis in the developing limbs. A highly conserved non-coding sequence about approximately 1 Mb upstream from the sonic hedgehog gene (SHH) was shown to be a long range regulator for SHH expression in the limb bud. Point mutations ...

journal_title：Journal of medical genetics

authors： Klopocki E,Ott CE,Benatar N,Ullmann R,Mundlos S,Lehmann K

更新日期：2008-06-01 00:00:00

abstract：BACKGROUND:The genetic complexity of infantile cardiomyopathies is remarkable, and the importance of mitochondrial translation defects as a causative factor is only starting to be recognised. We investigated the genetic basis for infantile onset recessive hypertrophic cardiomyopathy in two siblings. METHODS AND RESULT...

journal_title：Journal of medical genetics

authors： Carroll CJ,Isohanni P,Pöyhönen R,Euro L,Richter U,Brilhante V,Götz A,Lahtinen T,Paetau A,Pihko H,Battersby BJ,Tyynismaa H,Suomalainen A

更新日期：2013-03-01 00:00:00

abstract：BACKGROUND:Following predictive testing for Huntington disease (HD), knowledge of one's carrier status may have consequences on disease onset. Our study aimed to address two questions. First, does knowledge of being a carrier of the pathological HD mutation trigger onset of the disease? Second, does this knowledge infl...

journal_title：Journal of medical genetics

authors： Gargiulo M,Tezenas du Montcel S,Jutras MF,Herson A,Cazeneuve C,Durr A

更新日期：2017-08-01 00:00:00

abstract：:We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the pati...

journal_title：Journal of medical genetics

authors： Ryan AK,Goodship JA,Wilson DI,Philip N,Levy A,Seidel H,Schuffenhauer S,Oechsler H,Belohradsky B,Prieur M,Aurias A,Raymond FL,Clayton-Smith J,Hatchwell E,McKeown C,Beemer FA,Dallapiccola B,Novelli G,Hurst JA,Ignatius

更新日期：1997-10-01 00:00:00

abstract：:The inheritance of restriction fragment length polymorphisms for two fibrillar collagen genes (COL1A2 and COL3A1) has been studied in a large Marfan syndrome kindred. We are able to show discordant segregation between the Marfan syndrome and each of the two collagen gene markers. ...

journal_title：Journal of medical genetics

authors： Dalgleish R,Hawkins JR,Keston M

更新日期：1987-03-01 00:00:00

abstract：:Two neonates with limb-body wall complex (LBWC) and complete absence of the external genitalia are presented. Our patients are the sixth and seventh cases of complete absence of the external genitalia recorded in English publications and the first two cases associated with LBWC. The incidence of complete absence of th...

journal_title：Journal of medical genetics

authors： Litwin A,Merlob P,Grunebaum M

更新日期：1988-05-01 00:00:00

abstract：:Four cases of unilateral giant breasts from two unrelated families are described. Three of the patients were managed surgically. It is speculated from a review of available published reports that this condition may be genetic with an autosomal dominant mode of inheritance. ...

journal_title：Journal of medical genetics

authors： Badejo OA

更新日期：1984-04-01 00:00:00

abstract：BACKGROUND:Enzyme deficiencies of the oxidative phosphorylation (OXPHOS) system may be caused by mutations in the mitochondrial DNA (mtDNA) or in the nuclear DNA. OBJECTIVE:To analyse the sequences of the mtDNA coding region in 25 patients with OXPHOS system deficiency to identify the underlying genetic defect. RESUL...

journal_title：Journal of medical genetics

authors： Hinttala R,Smeets R,Moilanen JS,Ugalde C,Uusimaa J,Smeitink JA,Majamaa K

更新日期：2006-11-01 00:00:00

abstract：:Recently five patients with an Albright hereditary osteodystrophy (AHO)-like phenotype were reported to have a subtelomeric deletion of the long arm of chromosome 2. These patients showed a striking resemblance to a number of patients from a large pedigree known to us for a long time. After molecular confirmation of a...

journal_title：Journal of medical genetics

authors： Bijlsma EK,Aalfs CM,Sluitjer S,Oude Luttikhuis ME,Trembath RC,Hoovers JM,Hennekam RC

更新日期：1999-08-01 00:00:00

abstract：:HLA and Gm typing were carried out in 16 families. Seven families included 10 sib pairs with rheumatoid arthritis (RA) and autoimmune thyroid disease (ATD) respectively, and nine families included 16 sib pairs with RA and circulating thyroid autoantibodies respectively. Eight, 11, and seven sib pairs with either RA or...

journal_title：Journal of medical genetics

authors： Sanders PA,Grennan DM,Dyer PA,de Lange GG,Harris R

更新日期：1985-12-01 00:00:00

abstract：:An infant with features of trisomy 10p syndrome was found to have an abnormal chromosome 10: 46, XY, rec(10), dup p, inv(10) (p11q26) mat. The infant's mother was heterozygous for a pericentric inversion involving chromosome 10 (46, XX, inv (10) (p11q26). The infant's derivative chromosome was apparently produced by m...

journal_title：Journal of medical genetics

authors： Lansky-Shafer SC,Daniel WL,Ruiz L

更新日期：1981-02-01 00:00:00

abstract：BACKGROUND:A recent genetic study in mice and humans revealed the modulatory effect of MC1R (melanocortin-1 receptor) gene variants on kappa-opioid receptor mediated analgesia. It is unclear whether this gene affects basal pain sensitivity or the efficacy of analgesics acting at the more clinically relevant mu-opioid r...

journal_title：Journal of medical genetics

authors： Mogil JS,Ritchie J,Smith SB,Strasburg K,Kaplan L,Wallace MR,Romberg RR,Bijl H,Sarton EY,Fillingim RB,Dahan A

更新日期：2005-07-01 00:00:00

abstract：BACKGROUND:The genetic causes of the majority of male and female infertility caused by human non-obstructive azoospermia (NOA) and premature ovarian insufficiency (POI) with meiotic arrest are unknown. OBJECTIVE:To identify the genetic cause of NOA and POI in two affected members from a consanguineous Chinese family. ...

journal_title：Journal of medical genetics

authors： He WB,Tu CF,Liu Q,Meng LL,Yuan SM,Luo AX,He FS,Shen J,Li W,Du J,Zhong CG,Lu GX,Lin G,Fan LQ,Tan YQ

更新日期：2018-03-01 00:00:00