Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.

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 two generation family with neurofibromatosis type 2 (NF2) is presented in which a family member requested presymptomatic molecular diagnosis. Since the consultand's mother had clinically well defined NF2, he was quoted to be at 50% risk of carrying an NF2 mutation. Mutation screening in the mother did not show the c...

journal_title：Journal of medical genetics

authors： Bijlsma EK,Wallace AJ,Evans DG

更新日期：1997-11-01 00:00:00

abstract：:A case of partial trisomy 6p is reported with a review of the various characteristics of this syndrome. ...

journal_title：Journal of medical genetics

authors： Côté GB,Papadakou-Lagoyanni S,Sbyrakis S

更新日期：1978-12-01 00:00:00

abstract：:Hereditary multiple exostoses (HME) is a genetically heterogeneous autosomal dominant disorder characterised by the development of bony protuberances mainly located on the long bones. Three HME loci have been mapped to chromosomes 8q24 (EXT1), 11p11-13 (EXT2), and 19p (EXT3). The EXT1 and EXT2 genes encode glycosyltra...

journal_title：Journal of medical genetics

authors： Francannet C,Cohen-Tanugi A,Le Merrer M,Munnich A,Bonaventure J,Legeai-Mallet L

更新日期：2001-07-01 00:00:00

abstract：:A family is described in which 2 sibs had similar congenital abnormalities. Chromosome investigation of the mother and another child disclosed they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal infants was determined and was found to be consistent with partial trisomy 18,46,X...

journal_title：Journal of medical genetics

authors： Niazi M,Coleman DV,Saldaña-Garcia P

更新日期：1978-04-01 00:00:00

abstract：:Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome 1q32-q41. DNA from a family with four of seven sibs affected with clinical characteristics of Usher syndrome type ...

journal_title：Journal of medical genetics

authors： Pieke Dahl S,Kimberling WJ,Gorin MB,Weston MD,Furman JM,Pikus A,Möller C

更新日期：1993-10-01 00:00:00

abstract：:PPARgamma, the gamma isoform of a family of peroxisome proliferator activated receptors, plays a key role in adipocyte differentiation. Recently, its broad expression in multiple tissues and several epithelial cancers has been shown. Further, somatic loss of function mutations in PPARgamma have been found in primary c...

journal_title：Journal of medical genetics

authors： Zhou XP,Smith WM,Gimm O,Mueller E,Gao X,Sarraf P,Prior TW,Plass C,von Deimling A,Black PM,Yates AJ,Eng C

更新日期：2000-06-01 00:00:00

abstract：BACKGROUND:Lynch syndrome, an autosomal-dominant disorder characterised by high colorectal and endometrial cancer risks, is caused by inherited mutations in DNA mismatch repair (MMR) genes. Mutations fully abrogating gene function are unambiguously disease causing. However, missense mutations often have unknown functio...

journal_title：Journal of medical genetics

authors： Wielders EA,Hettinger J,Dekker R,Kets CM,Ligtenberg MJ,Mensenkamp AR,van den Ouweland AM,Prins J,Wagner A,Dinjens WN,Dubbink HJ,van Hest LP,Menko F,Hogervorst F,Verhoef S,te Riele H

更新日期：2014-04-01 00:00:00

abstract：:BACKGROUND Mutations in SCN1A can cause genetic epilepsy with febrile seizures plus (GEFS+, inherited missense mutations) or Dravet syndrome (DS, de novo mutations of all types). Although the mutational spectra are distinct, these disorders share major features and 10% of DS patients have an inherited SCN1A mutation. ...

journal_title：Journal of medical genetics

authors： Depienne C,Trouillard O,Gourfinkel-An I,Saint-Martin C,Bouteiller D,Graber D,Barthez-Carpentier MA,Gautier A,Villeneuve N,Dravet C,Livet MO,Rivier-Ringenbach C,Adam C,Dupont S,Baulac S,Héron D,Nabbout R,Leguern E

更新日期：2010-06-01 00:00:00

abstract：BACKGROUND:The clinical phenotypes of females with fragile X full mutations vary drastically. Comparisons of discordant monozygotic twins provide opportunities to ascertain crucial factors that influence disease phenotype penetrance. OBJECTIVE:To identify crucial factors influencing the phenotypic expression of fragil...

journal_title：Journal of medical genetics

authors： Huang W,Luo S,Ou J,Zhu F,Xia Y,Xue J,Pan Q,Wu L,Duan R

更新日期：2014-03-01 00:00:00

abstract：:This report concerns two families in which the index patients are sporadic cases of a benign form of muscular dystrophy. In both families the sisters of the patients have married a close relative. The respective risks for a child of these consanguineous marriages being affected with either X linked Becker muscular dys...

journal_title：Journal of medical genetics

authors： Wolff G,Müller CR,Grimm T

更新日期：1989-05-01 00:00:00

abstract：:Having identified teratogenic factors, primary prevention of congenital defects is possible by the implementation of specific measures in pregnant women or those planning pregnancy. Our current understanding of the epigenetic processes acting during reproductive events raises new possibilities to prevent both heritabl...

journal_title：Journal of medical genetics

authors： Martínez-Frías ML

更新日期：2010-02-01 00:00:00

abstract：:Fragile X syndrome is the major cause of inherited mental retardation. The molecular basis for the expression of the fragile X phenotype is the expansion of an unstable CGG repeat element which inhibits transcription of the FMR1 gene. The fragile X syndrome shows great diversity in its phenotype as well as in its cyto...

journal_title：Journal of medical genetics

authors： Pintado E,de Diego Y,Hmadcha A,Carrasco M,Sierra J,Lucas M

更新日期：1995-11-01 00:00:00

abstract：PURPOSE:Adoptees are a population that could benefit from genetic testing to fill gaps in family health history (FHH). Elective genomic testing (EGT) provides adoptees with clinical genetic testing options to learn about genetic health risks in the absence of FHH. We assessed adoptees' interests in, motivations for and...

journal_title：Journal of medical genetics

authors： Edgar J,Bao A,Maga T,Schwartz M,Yates C,Spencer S

更新日期：2020-12-21 00:00:00

abstract：BACKGROUND:Tibial pseudarthrosis is associated with neurofibromatosis type 1 (NF1) and there is wide clinical variability of the tibial dysplasia in NF1, suggesting the possibility of genetic modifiers. Double inactivation of NF1 is postulated to be necessary for the development of tibial pseudarthrosis, but tissue or ...

journal_title：Journal of medical genetics

authors： Sant DW,Margraf RL,Stevenson DA,Grossmann AH,Viskochil DH,Hanson H,Everitt MD,Rios JJ,Elefteriou F,Hennessey T,Mao R

更新日期：2015-04-01 00:00:00

abstract：BACKGROUND:Autistic spectrum disorders (ASDs) with developmental delay and seizures are a genetically heterogeneous group of diseases caused by at least 700 different genes. Still, a number of cases remain genetically undiagnosed. OBJECTIVE:The objective of this study was to identify and characterise pathogenic varian...

journal_title：Journal of medical genetics

authors： Hubert L,Cannata Serio M,Villoing-Gaudé L,Boddaert N,Kaminska A,Rio M,Lyonnet S,Munnich A,Poirier K,Simons M,Besmond C

更新日期：2020-02-01 00:00:00

abstract：BACKGROUND:Anticonvulsants taken in pregnancy are associated with an increased risk of malformations and developmental delay in the children. To evaluate the pattern of abnormalities associated with prenatal anticonvulsant exposure further, we undertook a clinical study of 57 children with fetal anticonvulsant syndrome...

journal_title：Journal of medical genetics

authors： Moore SJ,Turnpenny P,Quinn A,Glover S,Lloyd DJ,Montgomery T,Dean JC

更新日期：2000-07-01 00:00:00

abstract：:A family with the EEC syndrome is reported. Two sibs have the classical form of the condition with ectrodactyly, ectodermal dysplasia, and clefting. Their mother, however, has only minimal evidence, with preaxial polydactyly of the right hand and duplication of the terminal phalanx of the second toe of the left foot w...

journal_title：Journal of medical genetics

authors： Tse K,Temple IK,Baraitser M

更新日期：1990-12-01 00:00:00

abstract：BACKGROUND:Deletions of the HOXC gene cluster result in variable phenotypes in mice, but have been rarely described in humans. OBJECTIVE:To report chromosome 12q13.13 microdeletions ranging from 13 to 175 kb and involving the 5' HOXC genes in four families, segregating congenital lower limb malformations, including cl...

journal_title：Journal of medical genetics

authors： Alvarado DM,McCall K,Hecht JT,Dobbs MB,Gurnett CA

更新日期：2016-04-01 00:00:00

abstract：:Adolescents who are actively requesting Huntington's predictive testing of their own accord pose a dilemma to those providing testing. In the absence of empirical evidence as regards the impact of genetic testing on minors, current policy and guidelines, based on the ethical principles of non-maleficence and respect f...

journal_title：Journal of medical genetics

authors： Binedell J,Soldan JR,Scourfield J,Harper PS

更新日期：1996-11-01 00:00:00

abstract：:Cardio-facio-cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello syndrome (CS) are clinically related developmental disorders that have been recently linked to mutations in the RAS/MEK/ERK signalling pathway. This study was a mutation analysis of the KRAS, BRAF, MEK1 and MEK2 genes in a total of 130 patients ...

journal_title：Journal of medical genetics

authors： Nava C,Hanna N,Michot C,Pereira S,Pouvreau N,Niihori T,Aoki Y,Matsubara Y,Arveiler B,Lacombe D,Pasmant E,Parfait B,Baumann C,Héron D,Sigaudy S,Toutain A,Rio M,Goldenberg A,Leheup B,Verloes A,Cavé H

更新日期：2007-12-01 00:00:00

abstract：BACKGROUND:Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterised by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1). Alluding to the underlying genetic defect, we refer to this syndrome as constitutio...

journal_title：Journal of medical genetics

authors： Kratz CP,Holter S,Etzler J,Lauten M,Pollett A,Niemeyer CM,Gallinger S,Wimmer K

更新日期：2009-06-01 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:Risk prediction models are widely used in clinical genetic counselling. Despite their frequent use, the genetic risk models BOADICEA, BRCAPRO, IBIS and extended Claus model (eCLAUS), used to estimate BRCA1/2 mutation carrier probabilities, have never been comparatively evaluated in a large sample from centra...

journal_title：Journal of medical genetics

authors： Fischer C,Kuchenbäcker K,Engel C,Zachariae S,Rhiem K,Meindl A,Rahner N,Dikow N,Plendl H,Debatin I,Grimm T,Gadzicki D,Flöttmann R,Horvath J,Schröck E,Stock F,Schäfer D,Schwaab I,Kartsonaki C,Mavaddat N,Schlegelberg

更新日期：2013-06-01 00:00:00

abstract：OBJECTIVES:To evaluate the feasibility of a reduced counselling programme for predictive genetic testing for hereditary non-polyposis colorectal cancer (HNPCC) in terms of counsellees' opinions on the extent and significance of genetic counselling and need for psychological support at different phases of the testing pr...

journal_title：Journal of medical genetics

authors： Aktan-Collan K,Mecklin JP,de la Chapelle A,Peltomäki P,Uutela A,Kääriäinen H

更新日期：2000-02-01 00:00:00

abstract：BACKGROUND:Distal hereditary motor neuronopathies (dHMN) are a group of genetic disorders characterised by motor neuron degeneration leading to muscle weakness that are caused by mutations in various genes. HMNJ is a distinct form of the disease that has been identified in patients from the Jerash region of Jordan. Our...

journal_title：Journal of medical genetics

authors： Ververis A,Dajani R,Koutsou P,Aloqaily A,Nelson-Williams C,Loring E,Arafat A,Mubaidin AF,Horany K,Bader MB,Al-Baho Y,Ali B,Muhtaseb A,DeSpenza T Jr,Al-Qudah AA,Middleton LT,Zamba-Papanicolaou E,Lifton R,Christodoulou

更新日期：2020-03-01 00:00:00

abstract：:To define the PKD1 locus further, the gene involved in the most frequent form of adult polycystic kidney disease, probes from 16 polymorphic loci were mapped on 16p13.1-pter with the combined use of cell lines containing rearranged chromosomes and family studies. Five breakpoints in the distal part of 16p arbitrarily ...

journal_title：Journal of medical genetics

authors： Breuning MH,Snijdewint FG,Brunner H,Verwest A,Ijdo JW,Saris JJ,Dauwerse JG,Blonden L,Keith T,Callen DF

更新日期：1990-10-01 00:00:00

abstract：:Cytological and cytogenetic studies were performed on nucleated fetal cells present in chorionic villus transport medium. The erythroblastic origin of these cells was shown. Fetal erythroblasts in spontaneous mitosis were frequently observed; chromosome counts were obtained from them but poor quality often prevented b...

journal_title：Journal of medical genetics

authors： Terzoli G,Cartolano R,Rossella F,Cantù-Rajnoldi A,Brambati B,Fraccaro M,Simoni G

更新日期：1992-10-01 00:00:00

abstract：PURPOSE:To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus. DESIGN:Observational and experimental study. METHODS:We carried out a phenotypic study of a unique four generation family with nystagmus. We performed gen...

journal_title：Journal of medical genetics

authors： Ragge NK,Hartley C,Dearlove AM,Walker J,Russell-Eggitt I,Harris CM

更新日期：2003-01-01 00:00:00

abstract：BACKGROUND:Psoriasis is an immune-mediated skin disorder that is inherited as a multifactorial trait. Linkage analyses have clearly mapped a primary disease susceptibility locus to the major histocompatibility complex (MHC) region on chromosome 6p21. More recently, whole-genome association studies have identified two n...

journal_title：Journal of medical genetics

authors： Wolf N,Quaranta M,Prescott NJ,Allen M,Smith R,Burden AD,Worthington J,Griffiths CE,Mathew CG,Barker JN,Capon F,Trembath RC

更新日期：2008-02-01 00:00:00