A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

abstract：:Three patients with accessory small ring chromosomes derived from chromosome 1 are presented together with additional clinical details and cytogenetic analyses of a previously reported patient. Cytogenetic analysis was undertaken by FISH using a reverse painting probe generated from one of the patients by microdissect...

journal_title：Journal of medical genetics

authors： Callen DF,Eyre H,Fang YY,Guan XY,Veleba A,Martin NJ,McGill J,Haan EA

更新日期：1999-11-01 00:00:00

abstract：:Although a seasonal trend in the birth distribution has been reported in cystic fibrosis (CF), this finding is still very controversial. The birth distribution of 113 patients with cystic fibrosis born in Saguenay-Lac-St-Jean (complete ascertainment) was analysed using two different statistical methods. Our results sh...

journal_title：Journal of medical genetics

authors： Daigneault J,Aubin G,Simard F,De Braekeleer M

更新日期：1991-09-01 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：:Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural cell adhesion molecules, are associated with X linked hydrocephalus and some allelic disorders. We describe a patient with X linked hydrocephalus and Hirschsprung's disease (HSCR) with a novel mutation in the L1CAM gene. This is...

journal_title：Journal of medical genetics

authors： Okamoto N,Wada Y,Goto M

更新日期：1997-08-01 00:00:00

abstract：:After the publication of evidence of the existence of a DNA polymorphism closely linked to the gene for Huntington's disease, attitudes towards predictive testing for Huntington's disease were evaluated in Belgium in a group of persons who are at risk for the disease and in a smaller group of their partners. The perce...

journal_title：Journal of medical genetics

authors： Evers-Kiebooms G,Cassiman JJ,van den Berghe H

更新日期：1987-05-01 00:00:00

abstract：:A 13-year-old girl sought medical advice, saying that for two years it had been increasingly difficult for her to extend her little finger. An examination revealed that all her fingers, with the exception of her thumbs, had no interphalangeal fold. Her mother had less pronounced signs of the same type. This abnormalit...

journal_title：Journal of medical genetics

authors： Lambert D,Nivelon-Chevallier A,Chapuis JL

更新日期：1977-12-01 00:00:00

abstract：:Favism is a severe, acute haemolytic anaemia which occurs in about 20% of G6PD deficient subjects after ingestion of fava beans. Since not all G6PD deficient subjects are sensitive to fava beans, the possibility has been suggested that extra erythrocytic factors may play an important role in the susceptibility to haem...

journal_title：Journal of medical genetics

authors： Mareni C,Repetto L,Forteleoni G,Meloni T,Gaetani GF

更新日期：1984-08-01 00:00:00

abstract：:Published reports on the sex ratio of spina bifida have been reviewed. With one exception, there seems to be no evidence of variation in the sex ratio of spina bifida. In particular, unlike anencephaly, the sex ratio of spina bifida seems to be unrelated to the prevalence of the malformation: this (M/(M+F)) is of the ...

journal_title：Journal of medical genetics

authors： James WH

更新日期：1979-10-01 00:00:00

abstract：BACKGROUND:Mutations in BRAF have recently been identified in a significant percentage of primary and metastatic cutaneous malignant melanomas. As ultraviolet (UV) exposure may play a role in the development of cutaneous melanoma lesions with BRAF mutations, BRAF mutation frequency in melanomas arising in sites protect...

journal_title：Journal of medical genetics

authors： Edwards RH,Ward MR,Wu H,Medina CA,Brose MS,Volpe P,Nussen-Lee S,Haupt HM,Martin AM,Herlyn M,Lessin SR,Weber BL

更新日期：2004-04-01 00:00:00

abstract：BACKGROUND:Cohen syndrome is a rare autosomal recessive disorder with a complex phenotype including psychomotor retardation, microcephaly, obesity with slender extremities, joint laxity, progressive chorioretinal dystrophy/myopia, intermittent isolated neutropenia, a cheerful disposition, and characteristic facial feat...

journal_title：Journal of medical genetics

authors： Rivera-Brugués N,Albrecht B,Wieczorek D,Schmidt H,Keller T,Göhring I,Ekici AB,Tzschach A,Garshasbi M,Franke K,Klopp N,Wichmann HE,Meitinger T,Strom TM,Hempel M

更新日期：2011-02-01 00:00:00

abstract：:A method is described to investigate the inheritance of disease predisposition in cancer families. It is an extension of classic genetic linkage analysis, which enables information on loss of constitutional heterozygosity (LOCH) to be incorporated into the model. This adapted model treats LOCH data as additional obser...

journal_title：Journal of medical genetics

authors： Teare MD,Rohde K,Santibáñez Koref MF

更新日期：1994-06-01 00:00:00

abstract：:Relatively few point mutations have been found in the dystrophin gene and of these only two have been associated with mosaicism. A single base insertion has been identified and quantified in a mother of two sons affected with Duchenne muscular dystrophy. It has been determined that she is a somatic mosaic with the mut...

journal_title：Journal of medical genetics

authors： Smith TA,Yau SC,Bobrow M,Abbs SJ

更新日期：1999-04-01 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：:The long-term decline in the incidence of the neural tube malformations, anencephaly and spina bifida (ASB), ended in the mid-1950's in New York State. Since that time, the rate of these birth defects has remained between 1 and 1.5/1000 births. In this low incidence population, we tested the basic tenets which support...

journal_title：Journal of medical genetics

authors： Janerich DT,Piper J

更新日期：1978-04-01 00:00:00

abstract：:We report an 18 year old female with a de novo ring chromosome 3 found after investigation for short stature. Her karyotype was interpreted as 46,XX, r(3)(p26.2q29). Her phenotype is milder than previously reported cases and illustrates the mild end of the spectrum of the ring chromosome 3 phenotype. ...

journal_title：Journal of medical genetics

authors： McKinley M,Colley A,Sinclair P,Donnai D,Andrews T

更新日期：1991-08-01 00:00:00

abstract：BACKGROUND:The genetic causes of human idiopathic non-obstructive azoospermia (NOA) with meiotic arrest remain unclear. METHODS:Two Chinese families with infertility participated in the study. In family 1, two brothers were affected by idiopathic NOA. In family 2, the proband was diagnosed with idiopathic NOA, and his...

journal_title：Journal of medical genetics

authors： Yao C,Yang C,Zhao L,Li P,Tian R,Chen H,Guo Y,Huang Y,Zhi E,Zhai J,Sun H,Zhang J,Hong Y,Zhang L,Ji Z,Zhang F,Zhou Z,Li Z

更新日期：2020-09-08 00:00:00

abstract：:We report a 13 year old boy with fragile X syndrome resulting from a de novo deletion of the FMR1 and FMR2 genes extending from (and including) DXS7536 proximally to FMR2 distally. The patient has severe developmental delay, epilepsy, and behavioural difficulties, including autistic features. He has epicanthic folds, ...

journal_title：Journal of medical genetics

authors： Moore SJ,Strain L,Cole GF,Miedzybrodzka Z,Kelly KF,Dean JC

更新日期：1999-07-01 00:00:00

abstract：PURPOSE AND SCOPE:The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. This statement has been...

journal_title：Journal of medical genetics

authors： Boycott K,Hartley T,Adam S,Bernier F,Chong K,Fernandez BA,Friedman JM,Geraghty MT,Hume S,Knoppers BM,Laberge AM,Majewski J,Mendoza-Londono R,Meyn MS,Michaud JL,Nelson TN,Richer J,Sadikovic B,Skidmore DL,Stockley T,

更新日期：2015-07-01 00:00:00

abstract：BACKGROUND:Submicroscopic subtelomeric chromosome defects have been found in 7.4% of children with moderate to severe mental retardation and in 0.5% of children with mild retardation. Effective clinical preselection is essential because of the technical complexities and cost of screening for subtelomere deletions. MET...

journal_title：Journal of medical genetics

authors： de Vries BB,White SM,Knight SJ,Regan R,Homfray T,Young ID,Super M,McKeown C,Splitt M,Quarrell OW,Trainer AH,Niermeijer MF,Malcolm S,Flint J,Hurst JA,Winter RM

更新日期：2001-03-01 00:00:00

abstract：:Costovertebral dysplasia comprises multiple malformations of the vertebrae and ribs, with a characteristic clinical picture of short trunk dwarfism, short neck, scoliosis, and rib cage deformity. We describe two sibs with the syndrome who are presumed to represent the autosomal recessive form of the disorder. One sib ...

journal_title：Journal of medical genetics

authors： David TJ,Glass A

更新日期：1983-12-01 00:00:00

abstract：:Recent epidemiological interest has focused on separation of neural tube defects (NTD) into subgroups which may differ pathogenetically and aetiologically, for example, 'upper' and 'lower' spina bifida. In order to validate the use of pathologists' lesion descriptions by epidemiologists and others, a postal survey of ...

journal_title：Journal of medical genetics

authors： Dolk H,Seller MJ

更新日期：1993-11-01 00:00:00

abstract：:We report on a proband with both a Robertsonian translocation and Turner's syndrome. Study of the parental origin of the X chromosome performed by microsatellite analysis indicates paternal origin of the X chromosome (Xpat). The occurrence of chromosome aberrations as a consequence of interchromosomal interactions is ...

journal_title：Journal of medical genetics

authors： Krajinovic M,Ivanovic K,Mestroni L,Diklic V,Nikolis J

更新日期：1994-03-01 00:00:00

abstract：:Sex linked recessive deafness is a rare cause of male genetic deafness, estimated to account for 6.2% of male genetic deafness in 1966. A male excess was found in the deaf population of Ireland in 1851. Reevaluation of this survey of 1851 confirms sex linked deafness as a factor in the disproportionate number of deaf ...

journal_title：Journal of medical genetics

authors： Reardon W

更新日期：1990-06-01 00:00:00

abstract：BACKGROUND:Alport syndrome is a clinically heterogeneous, progressive nephropathy caused by mutations in collagen IV genes, namely COL4A3 and COL4A4 on chromosome 2 and COL4A5 on chromosome X. The wide phenotypic variability and the presence of incomplete penetrance suggest that a simple Mendelian model cannot complete...

journal_title：Journal of medical genetics

authors： Mencarelli MA,Heidet L,Storey H,van Geel M,Knebelmann B,Fallerini C,Miglietti N,Antonucci MF,Cetta F,Sayer JA,van den Wijngaard A,Yau S,Mari F,Bruttini M,Ariani F,Dahan K,Smeets B,Antignac C,Flinter F,Renieri A

更新日期：2015-03-01 00:00:00

abstract：:Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes (ALDH7A1, PNPO, ALPL or ALDH4A1). In neonatal seizures, defects in ALDH7A1 and PNPO explain a major fraction of cases. Very recently biallelic mutations in PROSC were shown to be a novel cause in five fami...

journal_title：Journal of medical genetics

authors： Plecko B,Zweier M,Begemann A,Mathis D,Schmitt B,Striano P,Baethmann M,Vari MS,Beccaria F,Zara F,Crowther LM,Joset P,Sticht H,Papuc SM,Rauch A

更新日期：2017-12-01 00:00:00

abstract：:We describe a case of pycnodysostosis with porencephaly and suggest an explanation for the porencephaly by a mechanism of imbalance between brain growth and its vascular supply and a normal but unopposed cerebrospinal fluid pressure. ...

journal_title：Journal of medical genetics

authors： Figueiredo J,Reis A,Vaz R,Leáo M,Cruz C

更新日期：1989-12-01 00:00:00

abstract：:Cockayne's syndrome (CS) is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. In cultured CS fibroblasts, the failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful and relatively simple diagnostic test. We have...

journal_title：Journal of medical genetics

authors： Lehmann AR,Thompson AF,Harcourt SA,Stefanini M,Norris PG

更新日期：1993-08-01 00:00:00

abstract：BACKGROUND:Limb-girdle muscular dystrophy type R1 (LGMDR1) can be caused by recessive CAPN3 mutations accounting for the majority of LGMD. To date, no systemic evaluation has been performed to analyse the detrimental and normal mutations on CAPN3 and its hotspots. METHODS:CAPN3 variants (n=112) from a total of 124 pat...

journal_title：Journal of medical genetics

authors： Zhong H,Zheng Y,Zhao Z,Lin P,Xi J,Zhu W,Lin J,Lu J,Yu M,Zhang W,Lv H,Yan C,Hu J,Wang Z,Lu J,Zhao C,Yuan Y,Luo S

更新日期：2020-09-29 00:00:00

abstract：BACKGROUND:Fabry disease is characterised by the progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in vascular endothelial cells. Enzyme replacement therapy (ERT) clears this accumulation. We analysed plasma proteome profiles before and after ERT to characterise its molecular pathol...

journal_title：Journal of medical genetics

authors： Heo SH,Kang E,Kim YM,Go H,Kim KY,Jung JY,Kang M,Kim GH,Kim JM,Choi IH,Choi JH,Jung SC,Desnick RJ,Yoo HW,Lee BH

更新日期：2017-11-01 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