Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2).

abstract：BACKGROUND:The use of array comparative genome hybridisation (CGH) analyses for investigation of children with mental retardation has led to the identification of a growing number of new microdeletion and microduplication syndromes, some of which have become clinically well characterised and some that await further del...

journal_title：Journal of medical genetics

authors： Roos L,Jønch AE,Kjaergaard S,Taudorf K,Simonsen H,Hamborg-Petersen B,Brøndum-Nielsen K,Kirchhoff M

更新日期：2009-10-01 00:00:00

abstract：:By using the genetic linkage data between the facioscapulohumeral muscular dystrophy (FSHD) gene and 57 markers on various autosomes, we have constructed an exclusion map for this disorder. The maximum likelihood location of the FSHD gene and the percentage of the excluded areas on each chromosome are presented here. ...

journal_title：Journal of medical genetics

authors： Sarfarazi M,Upadhyaya M,Padberg G,Pericak-Vance M,Siddique T,Lucotte G,Lunt P

更新日期：1989-08-01 00:00:00

abstract：:In type I familial amyloid polyneuropathy (FAP) caused by a variant Met30-transthyretin (TTR), genetic anticipation has been reported. To determine whether anticipation of the disease is a true biological phenomenon or the result of ascertainment bias, we compared age at onset of the affected child with that of the af...

journal_title：Journal of medical genetics

authors： Yamamoto K,Ikeda S,Hanyu N,Takeda S,Yanagisawa N

更新日期：1998-01-01 00:00:00

abstract：BACKGROUND:Early infantile epileptic encephalopathies usually manifest as severely impaired cognitive and motor development and often result in a devastating permanent global developmental delay and intellectual disability. A large set of genes has been implicated in the aetiology of this heterogeneous group of disorde...

journal_title：Journal of medical genetics

authors： Edvardson S,Oz S,Abulhijaa FA,Taher FB,Shaag A,Zenvirt S,Dascal N,Elpeleg O

更新日期：2013-02-01 00:00:00

abstract：BACKGROUND:Primary pulmonary hypertension (PPH), resulting from occlusion of small pulmonary arteries, is a devastating condition. Mutations of the bone morphogenetic protein receptor type II gene (BMPR2), a component of the transforming growth factor beta (TGF-beta) family which plays a key role in cell growth, have r...

journal_title：Journal of medical genetics

authors： Thomson JR,Machado RD,Pauciulo MW,Morgan NV,Humbert M,Elliott GC,Ward K,Yacoub M,Mikhail G,Rogers P,Newman J,Wheeler L,Higenbottam T,Gibbs JS,Egan J,Crozier A,Peacock A,Allcock R,Corris P,Loyd JE,Trembath RC,Nic

更新日期：2000-10-01 00:00:00

abstract：:Linkage of the anonymous marker D3S2 at 3p21 has been shown in three British families with dominant dystrophic epidermolysis bullosa with a combined lod score of 6.75 at theta = 0. This locus is close to the collagen type VII locus implying that abnormalities of this gene cause dominant dystrophic epidermolysis bullos...

journal_title：Journal of medical genetics

authors： al-Imara L,Richards AJ,Eady RA,Leigh IM,Farrall M,Pope FM

更新日期：1992-06-01 00:00:00

abstract：:Three hundred and fifty pregnancies were monitored by transabdominal amniocentesis in the fourteenth to sixteenth week of gestation followed by karyotyping or biochemica assays of cultured amniotic fluid cells and analysis of alpha-fetoprotein in the amniotic fluid supernatant. The pregnancy was interrupted in 36 case...

journal_title：Journal of medical genetics

authors： Niermeijer MF,Sachs ES,Jahodova M,Tichelaar-Klepper C,Kleijer WJ,Galjaard H

更新日期：1976-06-01 00:00:00

abstract：:Costello syndrome is characterised by postnatal growth deficiency, coarse facies, redundant skin on the neck, palms, soles, and fingers, dark skin, acanthosis nigricans, and papillomata. The natural history evolves in two phases, a severe failure to thrive during the first months contrasting with a normal weight gain ...

journal_title：Journal of medical genetics

authors： Philip N,Sigaudy S

更新日期：1998-03-01 00:00:00

abstract：:A child was brought to us with multiple anomalies. On examination we found an interstitial deletion in the long arms of chromosome 1. We studied genetic and chromosome markers, comparing our clinical and cytogenetic findings with other reported cases of chromosome 1 interstitial deletion. ...

journal_title：Journal of medical genetics

authors： de Pablo CE,García Sagredo JM,Ferro MT,Ferrando P,San Román C

更新日期：1980-12-01 00:00:00

abstract：BACKGROUND:The most commonly reported phenotypes described in patients with PTEN mutations are Bannayan-Riley-Ruvalcaba syndrome (BRRS), with childhood onset, macrocephaly, lipomas and developmental delay, and Cowden Syndrome (CS), an adult-onset condition recognised by mucocutaneous signs, with a risk of cancers, in p...

journal_title：Journal of medical genetics

authors： Lachlan KL,Lucassen AM,Bunyan D,Temple IK

更新日期：2007-09-01 00:00:00

abstract：BACKGROUND:Rare variants in hundreds of genes have been implicated in developmental delay (DD), intellectual disability (ID) and neurobehavioural phenotypes. TNRC6B encodes a protein important for RNA silencing. Heterozygous truncating variants have been reported in three patients from large cohorts with autism, but no...

journal_title：Journal of medical genetics

authors： Granadillo JL,P A Stegmann A,Guo H,Xia K,Angle B,Bontempo K,Ranells JD,Newkirk P,Costin C,Viront J,Stumpel CT,Sinnema M,Panis B,Pfundt R,Krapels IPC,Klaassens M,Nicolai J,Li J,Jiang Y,Marco E,Canton A,Latronico

更新日期：2020-10-01 00:00:00

abstract：:X linked spondyloepiphyseal dysplasia (SED) is caused by a growth defect of the vertebral bodies leading to characteristic changes in the vertebral bodies and a short trunk. The gene responsible for this disorder has previously been mapped to Xp22, with a maximum likelihood location between markers DXS16 and DXS92. We...

journal_title：Journal of medical genetics

authors： Bernard LE,Chitayat D,Weksberg R,Van Allen MI,Langlois S

更新日期：1996-05-01 00:00:00

abstract：CONTEXT:In hereditary cancer syndrome families with an identified cancer associated mutation, mutation testing changes the carrier risk status of the tested person and may change the carrier risk status of relatives. OBJECTIVE:This study aimed to describe the change in the distribution of carrier risk status resulting...

journal_title：Journal of medical genetics

authors： Watson P,Narod SA,Fodde R,Wagner A,Lynch JF,Tinley ST,Snyder CL,Coronel SA,Riley B,Kinarsky Y,Lynch HT

更新日期：2003-08-01 00:00:00

abstract：:Previous linkage studies in tuberous sclerosis have implicated three disease determining loci at 9q, 11q, and 12q. We have collated phenotypic and genotypic data on 1622 members of 128 families with tuberous sclerosis in order to evaluate simultaneously the evidence for these putative loci. Affection status in the fam...

journal_title：Journal of medical genetics

authors： Sampson JR,Janssen LA,Sandkuijl LA

更新日期：1992-12-01 00:00:00

abstract：INTRODUCTION:The Tousled-like kinases 1 and 2 (TLK1 and TLK2) are involved in many fundamental processes, including DNA replication, cell cycle checkpoint recovery and chromatin remodelling. Mutations in TLK2 were recently associated with 'Mental Retardation Autosomal Dominant 57' (MRD57, MIM# 618050), a neurodevelopme...

journal_title：Journal of medical genetics

authors： Pavinato L,Villamor-Payà M,Sanchiz-Calvo M,Andreoli C,Gay M,Vilaseca M,Arauz-Garofalo G,Ciolfi A,Bruselles A,Pippucci T,Prota V,Carli D,Giorgio E,Radio FC,Antona V,Giuffrè M,Ranguin K,Colson C,De Rubeis S,Dimartino

更新日期：2020-12-15 00:00:00

abstract：:The 64Cu incorporation into uncloned fibroblast cultures from 16 Menkes disease mothers and 19 first and second degree female relatives was examined. The mean incorporation for the Menkes disease mothers (36.2 +/- 3.6 SEM) differed significantly from that of 25 normal subjects (21.7 +/- 0.9 SEM) suggesting the presenc...

journal_title：Journal of medical genetics

authors： Horn N

更新日期：1980-08-01 00:00:00

abstract：BACKGROUND/AIMS:The development of colorectal cancer and a variable range of extracolonic manifestations in familial adenomatous polyposis (FAP) is the result of the dominant inheritance of adenomatous polyposis coli (APC) gene mutations. In this study, direct mutation analysis of the APC gene was performed to determin...

journal_title：Journal of medical genetics

authors： Wallis YL,Morton DG,McKeown CM,Macdonald F

更新日期：1999-01-01 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：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

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：:Deficiency of iduronate-2-sulphatase (IDS) results in the X linked recessive lysosomal storage disorder Hunter syndrome. Determination of carrier status in families affected by this disorder has been performed using a variety of enzymatic tests. None of these tests has proved to be 100% effective at identifying carrie...

journal_title：Journal of medical genetics

authors： Timms KM,Edwards FJ,Belmont JW,Yates JR,Gibbs RA

更新日期：1998-08-01 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:Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in KIF7, a key component of the Sonic hedgehog pathwa...

journal_title：Journal of medical genetics

authors： Putoux A,Nampoothiri S,Laurent N,Cormier-Daire V,Beales PL,Schinzel A,Bartholdi D,Alby C,Thomas S,Elkhartoufi N,Ichkou A,Litzler J,Munnich A,Encha-Razavi F,Kannan R,Faivre L,Boddaert N,Rauch A,Vekemans M,Attié-Bitac

更新日期：2012-11-01 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 published reports on patients with segmental aneusomy for chromosome 1p36 to help geneticists and other health professionals in the recognition of this emerging chromosomal syndrome. Terminal deletions of the short arm of chromosome 1 are associated with hypotonia and developmental delay (usually seve...

journal_title：Journal of medical genetics

authors： Slavotinek A,Shaffer LG,Shapira SK

更新日期：1999-09-01 00:00:00

abstract：:A case of true hermaphroditism is reported in which a 46,XY karyotype was associated with a testis and an ovotestis. The dual presence of a Fallopian tube and a vas deferens on the side of the ovotestis is documented as a previously unreported finding. ...

journal_title：Journal of medical genetics

authors： Williams C,Hughes IA

更新日期：1988-03-01 00:00:00

abstract：:Intelligence levels and intelligence profiles were investigated in 52 members of a large family with the fragile X syndrome. The mental abilities were evaluated by the three Wechsler intelligence tests (WAIS, WISC-R, and WPPSI). Chromosomal and psychological data were then compared. In 22 non-retarded fra(X) negative ...

journal_title：Journal of medical genetics

authors： Veenema H,Veenema T,Geraedts JP

更新日期：1987-01-01 00:00:00

abstract：:Trehalase activity was determined in serum, liver, and kidney in alloxan treated Swiss mice and in homozygous (Ob/Ob, Db/Db) and heterozygous (Ob/+, Db/m+) diabetic mice. Both alloxan and genetic diabetic mice exhibited a large increase in serum and liver trehalase activity with no change in kidney trehalase activity....

journal_title：Journal of medical genetics

authors： Baumann FC,Boizard-Callais F,Labat-Robert J

更新日期：1981-12-01 00:00:00

abstract：:Fragile X syndrome, the main cause of inherited mental retardation, is caused by transcriptional silencing of the fragile X mental retardation gene, FMR1. Absence of the associated protein FMRP leads to the dysregulation of many genes creating a phenotype of ADHD, anxiety, epilepsy and autism. The core aim of this rev...

journal_title：Journal of medical genetics

authors： D'Hulst C,Kooy RF

更新日期：2009-09-01 00:00:00

abstract：:The autosomal recessive limb-girdle muscular dystrophies (LGMD) represent a heterogeneous group of diseases which may be characterised by one or more autosomal loci. A gene at 15q has recently been found to be responsible for a mild form of LGMD in a group of families from the isolated island of Réunion, now classifie...

journal_title：Journal of medical genetics

authors： Passos-Bueno MR,Richard I,Vainzof M,Fougerousse F,Weissenbach J,Broux O,Cohen D,Akiyama J,Marie SK,Carvalho AA

更新日期：1993-05-01 00:00:00