Impaired male sex development in an infant with molecularly defined partial 9p monosomy: implication for a testis forming gene(s) on 9p.

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：BACKGROUND:Subtelomere fluorescence in situ hybridisation (FISH) analysis has increasingly been used as an adjunct to routine cytogenetic testing in order to detect small rearrangements. Previous reports have estimated an overall abnormality rate of 6%, with a range of 2-29% because of different inclusion criteria. ME...

journal_title：Journal of medical genetics

authors： Ravnan JB,Tepperberg JH,Papenhausen P,Lamb AN,Hedrick J,Eash D,Ledbetter DH,Martin CL

更新日期：2006-06-01 00:00:00

abstract：BACKGROUND:Intellectual disability (ID) is a highly heterogeneous condition affecting 2% of the population worldwide. In a field study conducted in a highly inbred area of Northeastern Brazil, we investigated a consanguineous family in which seven adults presented syndromic ID. METHODS:Genome-Wide Human SNP Array 6.0 ...

journal_title：Journal of medical genetics

authors： Figueiredo T,Melo US,Pessoa AL,Nobrega PR,Kitajima JP,Correa I,Zatz M,Kok F,Santos S

更新日期：2015-02-01 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：:A 13 year old girl was referred with congenital microcephaly, developmental delay, a prominent nose, highly arched palate, and an apparently low set left ear. She was found to have a pericentric inversion of one chromosome 7 and a ring chromosome 8, 46,XX,inv(7) (pter----p22::q11.23----p22::q11.23----qter), r(8) (p23q...

journal_title：Journal of medical genetics

authors： Verma RS,Conte RA,Pitter JH,Luke S

更新日期：1992-01-01 00:00:00

abstract：:Split hand-split foot malformation (SHFM) is a genetically heterogeneous limb developmental defect characterised by the absence of digital rays and syndactyly of the remaining digits. Three disease loci have recently been mapped to chromosomes 7q21 (SHFM1), Xq26 (SHFM2), and 10q25 respectively (SHFM3). We report the m...

journal_title：Journal of medical genetics

authors： Raas-Rothschild A,Manouvrier S,Gonzales M,Farriaux JP,Lyonnet S,Munnich A

更新日期：1996-12-01 00:00:00

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：:We report a new disorder that we have called genochondromatosis. Four patients from the same family with the characteristic localisation of chondromatosis (clavicle, upper end of humerus, and lower end of femur) were investigated. The favourable course, the dominant transmission, and previous publication of similar ca...

journal_title：Journal of medical genetics

authors： Le Merrer M,Fressinger P,Maroteaux P

更新日期：1991-07-01 00:00:00

abstract：BACKGROUND:DYNC1H1 encodes the heavy chain protein of the cytoplasmic dynein 1 motor protein complex that plays a key role in retrograde axonal transport in neurons. Furthermore, it interacts with the LIS1 gene of which haploinsufficiency causes a severe neuronal migration disorder in humans, known as classical lissenc...

journal_title：Journal of medical genetics

authors： Willemsen MH,Vissers LE,Willemsen MA,van Bon BW,Kroes T,de Ligt J,de Vries BB,Schoots J,Lugtenberg D,Hamel BC,van Bokhoven H,Brunner HG,Veltman JA,Kleefstra T

更新日期：2012-03-01 00:00:00

abstract：:Adrenal hypoplasia congenita (AHC) can occur due to deletions or mutations in the DAX 1 (NR0B1) gene on the X chromosome (OMIM 300200). This form of AHC is therefore predominantly seen in boys. Deletion of the DAX 1 gene can also be part of a larger contiguous deletion including the centromeric dystrophin and glycerol...

journal_title：Journal of medical genetics

authors： Shaikh MG,Boyes L,Kingston H,Collins R,Besley GT,Padmakumar B,Ismayl O,Hughes I,Hall CM,Hellerud C,Achermann JC,Clayton PE

更新日期：2008-09-01 00:00:00

abstract：:A family with juvenile proximal spinal muscular atrophy with dominant inheritance and complete penetrance is reported. The disease occurred in three generations and showed high variations in the age of onset and progression among the affected members. A characteristic feature was the constant involvement of facial nuc...

journal_title：Journal of medical genetics

authors： Cao A,Cainchetti C,Calisti L,Tangheroni W

更新日期：1976-04-01 00:00:00

abstract：BACKGROUND:Hyperparathyroidism is a common endocrinopathy characterised by the formation of parathyroid tumours. In this study, we determine the role of the recently identified gene, HRPT2, in parathyroid tumorigenesis. METHODS:Mutation analysis of HRPT2 was undertaken in 60 parathyroid tumours: five HPT-JT, three FIH...

journal_title：Journal of medical genetics

authors： Howell VM,Haven CJ,Kahnoski K,Khoo SK,Petillo D,Chen J,Fleuren GJ,Robinson BG,Delbridge LW,Philips J,Nelson AE,Krause U,Hammje K,Dralle H,Hoang-Vu C,Gimm O,Marsh DJ,Morreau H,Teh BT

更新日期：2003-09-01 00:00:00

abstract：:A family is described in which the father and three of his seven children have microcephaly, mild to moderate mental retardation, and sparse hair. The two affected boys have generalised seizures in addition. ...

journal_title：Journal of medical genetics

authors： van Haeringen A,Hurst JA,Savidge R,Baraitser M

更新日期：1990-02-01 00:00:00

abstract：:The impact of information-guidance type of genetic counseling was evaluated for the family planning of 2082 consultands. The understanding of the risks, parental decision, and the number of induced and spontaneous abortions were evaluated by the use of questionnaires. The stillbirths, livebirths, infant deaths, and ba...

journal_title：Journal of medical genetics

authors： Czeizel A,Métneki J,Osztovics M

更新日期：1981-04-01 00:00:00

abstract：PURPOSE:Previous reports cite high costs of clinical cancer genetic testing as main barriers to patient's willingness to test. We report findings of a pilot study that evaluates how different subsidy schemes impact genetic testing uptake and total cost of cancer management. METHODS:We included all patients who attende...

journal_title：Journal of medical genetics

authors： Li ST,Yuen J,Zhou K,Binte Ishak ND,Chen Y,Met-Domestici M,Chan SH,Tan YP,Allen JC Jr,Lim ST,Soo KC,Ngeow J

更新日期：2017-04-01 00:00:00

abstract：:Analysis of a large tuberous sclerosis pedigree confirmed linkage to a locus on the long arm of chromosome 9, with recombination events placing the disease gene distal to gelsolin and proximal to dopamine beta-hydroxylase. ...

journal_title：Journal of medical genetics

authors： Nellist M,Brook-Carter PT,Connor JM,Kwiatkowski DJ,Johnson P,Sampson JR

更新日期：1993-03-01 00:00:00

abstract：BACKGROUND:Gene-targeting studies in mice have revealed a key role for EVI1 protein in the maintenance of haematopoiesis, and argue in favour of a gene dosage requirement for EVI1 in the regulation of haematopoietic stem cells. Furthermore, a fusion transcript of MDS1 and EVI1 has been shown to play a critical role in ...

journal_title：Journal of medical genetics

authors： Nielsen M,Vermont CL,Aten E,Ruivenkamp CA,van Herrewegen F,Santen GW,Breuning MH

更新日期：2012-09-01 00:00:00

abstract：:As the variability and possible clinical significance of palm increase abnormalities receive greater attention, an accurate and objective method for evaluating the palm increase variants is required. A new method is described employing a topographic approach. A network of co-ordinates drawn on the palm prints enables ...

journal_title：Journal of medical genetics

authors： Dar H,Schmidt R

更新日期：1976-08-01 00:00:00

abstract：:Several mutations in the extracellular matrix protein matrilin-3 cause a heterogeneous disease spectrum affecting skeletal tissues. We introduced three disease causing point mutations leading to single amino acid exchanges (R116W, T298M, C299S) in matrilin-3 and expressed the corresponding proteins in primary articula...

journal_title：Journal of medical genetics

authors： Otten C,Wagener R,Paulsson M,Zaucke F

更新日期：2005-10-01 00:00:00

abstract：:Chromosome 1 is thought to represent about 6% of the total human genome and the 85 loci so far identified may constitute about 1% of the genes present on this chromosome. The existence of at least 22 loci sufficiently polymorphic in Europeans to be useful as genetic markers has allowed the construction of an elementar...

journal_title：Journal of medical genetics

authors： Povey S,Parrington JM

更新日期：1986-04-01 00:00:00

abstract：:Complete ascertainment of adult onset limb-girdle muscular dystrophy in the Lothian Region of Scotland was attempted. Ten index cases were identified giving a prevalence of 1.3 per 100 000 (0.9 per 100 000 for cases where the diagnosis of muscular dystrophy was supported by both electromyographic and muscle biopsy fin...

journal_title：Journal of medical genetics

authors： Yates JR,Emery AE

更新日期：1985-08-01 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：:A register of families with Duchenne muscular dystrophy (DMD) has been maintained in Wales since 1973. Since 1986 we have attempted to refine carrier status, and when necessary offer prenatal diagnosis, for those at significant risk by using intragenic probes. cDNA probes were included from the beginning of 1988. Thir...

journal_title：Journal of medical genetics

authors： Norman AM,Upadhyaya M,Thomas NS,Roberts K,Harper PS

更新日期：1989-09-01 00:00:00

abstract：BACKGROUND:Results of a Scandinavian genome scan in type 1 diabetes mellitus (T1D) have recently been reported. Among the novel, not previously reported chromosomal regions showing linkage to T1D was a region on chromosome 21. OBJECTIVE:To fine map this region on chromosome 21. METHODS AND RESULTS:The linked region w...

journal_title：Journal of medical genetics

authors： Bergholdt R,Nerup J,Pociot F

更新日期：2005-01-01 00:00:00

abstract：:The clinical and haematological findings in 19 Liberians probably homozygous for beta thalassaemia are described. The haemoglobin patterns were similar with Hb F levels in the 30-50% range and a raised level of Hb A2 and, although the clinical severity varied widely, over half the cases were symptomless and even the m...

journal_title：Journal of medical genetics

authors： Willcox MC,Weatherall DJ,Clegg JB

更新日期：1975-06-01 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：: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：:A case of a supernumerary metacentric small chromosome, diagnosed at birth, is described. The cytogenetic findings support its identification as i(18p). The clinical development from birth to 12 months is reported, with particular attention given to the psychomotor retardation and to the immunological aspect. ...

journal_title：Journal of medical genetics

authors： Rocchi M,Stormi M,Archidiacono N,Filippi G

更新日期：1979-02-01 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：BACKGROUND:Warfarin is a mainstay of therapy for conditions associated with an increased risk of thromboembolic events. However, the use of this common agent is fraught with complications and little is known regarding inter-individual variation in warfarin response. OBJECTIVE:We tested for association between single n...

journal_title：Journal of medical genetics

authors： Li T,Lange LA,Li X,Susswein L,Bryant B,Malone R,Lange EM,Huang TY,Stafford DW,Evans JP

更新日期：2006-09-01 00:00:00