The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix.

abstract：:The search for the genes responsible for many complex genetic diseases is well under way and has already been successful in some cases. The study of cancer as a complex genetic disease has lagged behind other conditions, largely because of particular problems that are associated with malignant disease. Cancer also, ho...

journal_title：Journal of medical genetics

authors： Houlston RS,Tomlinson IP

更新日期：2000-03-01 00:00:00

abstract：:A boy presenting with an incomplete form of the acrocallosal syndrome is described. The syndrome shows clinical variability and it is stressed that none of the components is constant and facial dysmorphism is not always characteristic. ...

journal_title：Journal of medical genetics

authors： Turolla L,Clementi M,Tenconi R

更新日期：1990-08-01 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：:The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as short stature (SS), chondrodysplasia punctata (CDPX), mental retardation (MRX), ichthyosis (XLI), and Kallmann syndrome (KAL). We describe the cli...

journal_title：Journal of medical genetics

authors： Meindl A,Hosenfeld D,Brückl W,Schuffenhauer S,Jenderny J,Bacskulin A,Oppermann HC,Swensson O,Bouloux P,Meitinger T

更新日期：1993-10-01 00:00:00

abstract：BACKGROUND:Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis and neural function. OBJECTIVES:To identify the cause of a similar phenotype of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic ...

journal_title：Journal of medical genetics

authors： Kutkowska-Kaźmierczak A,Rydzanicz M,Chlebowski A,Kłosowska-Kosicka K,Mika A,Gruchota J,Jurkiewicz E,Kowalewski C,Pollak A,Stradomska TJ,Kmieć T,Jakubowski R,Gasperowicz P,Walczak A,Śladowski D,Jankowska-Steifer E,Kornisze

更新日期：2018-06-01 00:00:00

abstract：:Chromosome and enzyme determinations were performed in 250 pregnancies between the 7th and the 12th week of gestation. The majority of the tests were performed for risk of chromosomal abnormalities and 75% of the women were 35 years old or more. We describe a chorionic villi sampling (CVS) technique which proved to be...

journal_title：Journal of medical genetics

authors： Brambati B,Simoni G,Danesino C,Oldrini A,Ferrazzi E,Romitti L,Terzoli G,Rossella F,Ferrari M,Fraccaro M

更新日期：1985-04-01 00:00:00

abstract：:A 10 1/2 year old female with skeletal abnormalities was referred for genetic consultation because of learning disabilities and a suggestion of 'Turner-like' stigmata. Cytogenetic analysis revealed a paracentric inversion of an X(q13.1q26.1) chromosome. ...

journal_title：Journal of medical genetics

authors： Herr HM,Horton SJ,Scott CI Jr

更新日期：1985-04-01 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：:Chromosome analysis using conventional staining, G banding, and, after BUdR incorporation, two R banding methods, one using Hoechst and one acridine orange, were performed on lymphocytes from a pair of female monozygotic twins. The culture conditions were designed to show the presence of the fragile X (q27-28) which h...

journal_title：Journal of medical genetics

authors： Tuckerman E,Webb T,Bundey SE

更新日期：1985-04-01 00:00:00

abstract：BACKGROUND:Infertility affects approximately 15% of couples worldwide with male infertility being responsible for approximately 50% of cases. Although accumulating evidence demonstrates the critical role of the X chromosome in spermatogenesis during the last few decades, the expression patterns and potential impact of ...

journal_title：Journal of medical genetics

authors： Lu C,Zhang Y,Qin Y,Xu Q,Zhou R,Cui Y,Zhu Y,Zhang X,Zhang J,Wei X,Wang M,Hang B,Mao JH,Snijders AM,Liu M,Hu Z,Shen H,Zhou Z,Guo X,Wu X,Wang X,Xia Y

更新日期：2021-01-01 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：:Hereditary non-polyposis colon cancer (HNPCC) is a heterogeneous group of tumour predisposition syndromes caused by germline mutations in at least four different mismatch repair genes. HNPCC patients are prone to the development of carcinomas of the intestinal tract and other specific sites. Identification of presumpt...

journal_title：Journal of medical genetics

authors： Kraus C,Kastl S,Günther K,Klessinger S,Hohenberger W,Ballhausen WG

更新日期：1999-12-01 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：:The use of genome wide single nucleotide polymorphism (SNP) arrays for high resolution molecular cytogenetic analysis using a combination of quantitative and genotype analysis is well established. This study demonstrates that by Mendelian analysis of the SNP genotypes of the parents and a sibling or other appropriate ...

journal_title：Journal of medical genetics

authors： Handyside AH,Harton GL,Mariani B,Thornhill AR,Affara N,Shaw MA,Griffin DK

更新日期：2010-10-01 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：BACKGROUND:Inherited disorders of fibrinogen are rare and affect either the quantity (hypofibrinogenaemia and afibrinogenaemia) or the quality of the circulating fibrinogen (dysfibrinogenaemia). Extensive allelic heterogeneity has been found for all three disorders: in congenital afibrinogenaemia >30 mutations, the maj...

journal_title：Journal of medical genetics

authors： Vu D,de Moerloose P,Batorova A,Lazur J,Palumbo L,Neerman-Arbez M

更新日期：2005-09-01 00:00:00

abstract：BACKGROUND:A Y chromosomal role in prostate cancer has previously been suggested by both cytogenetic findings and patterns of Y chromosomal gene expression. We took advantage of the well established and stable phylogeny of the non-recombining segment of the Y chromosome to investigate the association between Y chromoso...

journal_title：Journal of medical genetics

authors： Paracchini S,Pearce CL,Kolonel LN,Altshuler D,Henderson BE,Tyler-Smith C

更新日期：2003-11-01 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：:It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known complex allele which included mut...

journal_title：Journal of medical genetics

authors： Sidransky E,Tayebi N,Stubblefield BK,Eliason W,Klineburgess A,Pizzolato GP,Cox JN,Porta J,Bottani A,DeLozier-Blanchet CD

更新日期：1996-02-01 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：:Approximately 5%-10% of breast cancers are due to genetic predisposition caused by germline mutations; the most commonly tested genes are BRCA1 and BRCA2 mutations. Some mutations are unique to one family and others are recurrent; the spectrum of BRCA1/BRCA2 mutations varies depending on the geographical origins, popu...

journal_title：Journal of medical genetics

authors： Kwong A,Shin VY,Ho JC,Kang E,Nakamura S,Teo SH,Lee AS,Sng JH,Ginsburg OM,Kurian AW,Weitzel JN,Siu MT,Law FB,Chan TL,Narod SA,Ford JM,Ma ES,Kim SW

更新日期：2016-01-01 00:00:00

abstract：:Two half sibs with bilateral complete cleft lip and complete cleft of the palate associated with ectrodactyly of the hands and feet, born to the same phenotypically normal mother, are reported. The younger of the two sibs also has dominantly inherited tremors (also referred to as essential heredofamilial tremors) as d...

journal_title：Journal of medical genetics

authors： Lewis MB,Pashayan HM

更新日期：1981-10-01 00:00:00

abstract：:Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome associated with a characteristic pattern of visceromegaly and predisposition to childhood tumours. BWS is a genetically heterogeneous disorder; most cases are sporadic but approximately 15% are familial and a small number of BWS patients have cytoge...

journal_title：Journal of medical genetics

authors： Catchpoole D,Lam WW,Valler D,Temple IK,Joyce JA,Reik W,Schofield PN,Maher ER

更新日期：1997-05-01 00:00:00

abstract：BACKGROUND:Intellectual disability (ID) is one of the most common forms of disability worldwide, displaying a wide range of aetiologies and affecting nearly 2% of the global population. OBJECTIVE:To describe a novel autosomal recessive form of ID with strabismus and its underlying aetiology. MATERIALS AND METHODS:Aut...

journal_title：Journal of medical genetics

authors： Alazami AM,Hijazi H,Al-Dosari MS,Shaheen R,Hashem A,Aldahmesh MA,Mohamed JY,Kentab A,Salih MA,Awaji A,Masoodi TA,Alkuraya FS

更新日期：2013-07-01 00:00:00

abstract：:This report describes 7-month-old monozygotic twin female infants with GM1 gangliosidosis type I. In addition to the usual clinical and biochemical abnormalities generalized intracutaneous telangiectasis were present in both infants. ...

journal_title：Journal of medical genetics

authors： Ginsburg CM,Long CG

更新日期：1977-04-01 00:00:00

abstract：:We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been...

journal_title：Journal of medical genetics

authors： Christodoulou J,McDougall PN,Sheffield LJ

更新日期：1989-09-01 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 child with the Tel Hashomer camptodactyly syndrome is reported. Although muscle weakness and hypoplasia are reported features of this syndrome, further investigation of muscle function has not previously been carried out. We report a raised creatine kinase and an abnormal electromyogram and muscle biopsy in this syn...

journal_title：Journal of medical genetics

authors： Patton MA,McDermot KD,Lake BD,Baraitser M

更新日期：1986-06-01 00:00:00

abstract：:An interstitial deletion of the region q22.1-->q22.3 of chromosome 14 is described in a child with bilateral anophthalmia, dysmorphic features including micrognathia, small tongue, and high arched palate, developmental and growth retardation, undescended testes with a micropenis, and hypothyroidism. Interstitial delet...

journal_title：Journal of medical genetics

authors： Elliott J,Maltby EL,Reynolds B

更新日期：1993-03-01 00:00:00

abstract：BACKGROUND:The extent which universally common or population-specific alleles can explain between-population variations in phenotypes is unknown. The heritable coronary heart disease risk factor lipoprotein(a) (Lp(a)) level provides a useful case study of between-population variation, as the aetiology of twofold higher...

journal_title：Journal of medical genetics

authors： Chretien JP,Coresh J,Berthier-Schaad Y,Kao WH,Fink NE,Klag MJ,Marcovina SM,Giaculli F,Smith MW

更新日期：2006-12-01 00:00:00