Chromosomal microarray impacts clinical management.

abstract：:The cytogenetic analysis of 23 Japanese patients with amyotrophic lateral sclerosis is reported. G-banded chromosomes of cultured peripheral blood lymphocytes of one subject had a constitutional chromosomal translocation, t(7;13)(p22;q21). No constitutional chromosome abnormality was found in any of the other 22 Japan...

journal_title：Clinical genetics

authors： Kaneko K,Saito F,Sunohara N,Ikeuchi T

更新日期：1995-03-01 00:00:00

abstract：:Macular corneal dystrophy (MCD) is an autosomal recessive disease characterized by corneal opacities and caused by mutations in a carbohydrate sulfotransferase gene, known as CHST6. MCD type I patients show missense mutations in the CHST6-coding region, and MCD type II patients show a large deletion and replacement in...

journal_title：Clinical genetics

authors： Abbruzzese C,Kuhn U,Molina F,Rama P,De Luca M

更新日期：2004-02-01 00:00:00

abstract：:Within 3 working days in September, 1974, we made three prenatal diagnoses of 47,XY,+21 from three women of advanced maternal age. Two were 37 and 38 years old, respectively, and nulliparous. One was 42 years old and had four normal children. The possibility of cell contamination arose when the second diagnosis of tri...

journal_title：Clinical genetics

authors： Hsu LY,Godmilow L,Serotkiq AV,Hirschhorn K

更新日期：1976-04-01 00:00:00

abstract：:Hereditary non-polyposis colorectal cancer (HNPCC) may be the result of Lynch syndrome (LS) caused by mutations in mismatch repair (MMR) genes, a syndrome of unknown etiology called familial colorectal cancer type-X (FCCTX), or familial serrated neoplasia associated with the colorectal cancer (CRC) somatic BRAF mutati...

journal_title：Clinical genetics

authors： Warden G,Harnett D,Green J,Wish T,Woods MO,Green R,Dicks E,Rahman P,Zhai G,Parfrey P

更新日期：2013-12-01 00:00:00

abstract：:Short stature skeletal dysplasia (SD) patients have orthopedic and neurologic complications causing significant pain and physical disability. We conducted a large cross-sectional online survey in 361 people with short stature SD (>10 years) to describe pain prevalence, characteristics, and the relationship between pai...

journal_title：Clinical genetics

authors： Alade Y,Tunkel D,Schulze K,McGready J,Jallo G,Ain M,Yost T,Hoover-Fong J

更新日期：2013-09-01 00:00:00

abstract：:The roles of genetic polymorphisms in the pathogenesis of recurrent miscarriage (RM) have been intensively studied. However, the results of these studies were inconsistent, especially when conducted in different populations. Therefore, we performed the current study to systematically review the broad spectrum of genet...

journal_title：Clinical genetics

authors： Shi X,Xie X,Jia Y,Li S

更新日期：2017-02-01 00:00:00

abstract：:Mutation of SLC26A4 is the most common cause of prelingual hearing loss in East Asia. Patients with SLC26A4 mutations have variable phenotypes ranging from non-syndromic hearing loss to Pendred syndrome. Here, we analyzed the correlation between genotype and various inner ear phenotypes and found a possible underlying...

journal_title：Clinical genetics

authors： Lee HJ,Jung J,Shin JW,Song MH,Kim SH,Lee JH,Lee KA,Shin S,Kim UK,Bok J,Lee KY,Choi JY,Park HJ

更新日期：2014-09-01 00:00:00

abstract：:A third case of an interstitial deletion of the long arm of chromosome 6 with clinical features mimicking Prader-Willi syndrome (PWS) is presented. Although preliminary clinical evaluation in each case suggested PWS, further review revealed that the features in all three cases are not completely compatible with the ch...

journal_title：Clinical genetics

authors： Stein CK,Stred SE,Thomson LL,Smith FC,Hoo JJ

更新日期：1996-06-01 00:00:00

abstract：:In this study, we examined the insertion/deletion (Ins/Del) and XbaI polymorphisms of the apolipoprotein B (APOB) gene and the -36delG polymorphism in the sterol regulatory element binding protein-1a (SREBP-1a) gene in 298 patients with non-diabetic angiographically assessed coronary artery disease (CAD), and 188 heal...

journal_title：Clinical genetics

authors： Rios DL,Vargas AF,Torres MR,Zago AJ,Callegari-Jacques SM,Hutz MH

更新日期：2003-05-01 00:00:00

abstract：:Two hundred and seventy-four patients with hemochromatosis and 1005 controls were HLA-typed, and HLA haplotypes were determined for 163 patients and 123 controls. The increased frequency of antigen A3 and haplotypes A3, B7 and A3, B14 in patients with hemochromatosis was confirmed. After correction for the space taken...

journal_title：Clinical genetics

authors： Le Mignon L,Simon M,Fauchet R,Edan G,Le Reun M,Brissot P,Genetet B,Bourel M

更新日期：1983-09-01 00:00:00

abstract：:We report our findings in four cases of metachromatic leukodystrophy diagnosed in Greece during the last 4 years. The age of onset and the clinical symptoms were those described for the late infantile form of the disease. However, one patient retained his speech and mental abilities despite his pronounced motor regres...

journal_title：Clinical genetics

authors： Michelakakis H,Dimitriou E,Bartsocas C,Skardoutsou A,Giouroukos S

更新日期：1990-01-01 00:00:00

abstract：:Uncertainty is a challenging aspect of caring for children with Duchenne/Becker muscular dystrophies (DBMD). Although uncertainty is often perceived as a state to be avoided, hope may influence caregivers' perceptions of uncertainty as opportunity. The goal of this cross-sectional quantitative study was to pilot a nov...

journal_title：Clinical genetics

authors： Bell M,Biesecker BB,Bodurtha J,Peay HL

更新日期：2019-06-01 00:00:00

abstract：:Plasma lipid and serum apoprotein concentrations were determined in twenty-nine individuals with Gaucher type I disease. Plasma total cholesterol, low density lipoprotein (LDL) cholesterol and high density lipoprotein (HDL) cholesterol were all significantly reduced in the patients with Gaucher disease compared to a g...

journal_title：Clinical genetics

authors： Ginsberg H,Grabowski GA,Gibson JC,Fagerstrom R,Goldblatt J,Gilbert HS,Desnick RJ

更新日期：1984-08-01 00:00:00

abstract：:Usher syndrome has been historically categorized into one of three classical types based on the patient phenotype. However, the vestibular phenotype does not infallibly predict which Usher genes are mutated. Conversely, the Usher syndrome genotype is not sufficient to reliably predict vestibular function. Here we pres...

journal_title：Clinical genetics

authors： Wafa TT,Faridi R,King KA,Zalewski C,Yousaf R,Schultz JM,Morell RJ,Muskett J,Turriff A,Tsilou E,Griffith AJ,Friedman TB,Zein WM,Brewer CC

更新日期：2021-02-01 00:00:00

abstract：:We describe two patients, a 19-year-old girl and a 19-year-old boy, with mosaic trisomy 18 and pigmentary dysplasias. Both patients had profound growth and mental retardation, marked kyphoscoliosis, bushy eyebrows, bulbous nose, simple ears, and joint contractures - clinical manifestations of long survivors with mosai...

journal_title：Clinical genetics

authors： Murano I,Ohashi H,Tsukahara M,Tonoki H,Okino F,Atsumi M,Kajii T

更新日期：1991-01-01 00:00:00

abstract：:Karyotype and DNA analyses using DNA probes were carried out in a family with the Cohen syndrome. Two affected brothers had normal chromosomal constitutions. A major deletion or duplication of genomic DNA fragments hybridized with the DNA probes, pML34 at D15S9 locus and pTD3-21 at D15S10 locus, assigned on 15q11-q12 ...

journal_title：Clinical genetics

authors： Kondo I,Hamabe J,Yamamoto K,Niikawa N

更新日期：1990-12-01 00:00:00

abstract：:Congenital heart disease (CHD) is one of most prevalent birth defects in the world. However, the underlying molecular mechanism(s) have not been fully understood. Here we report that increased CHD susceptibility is associated with genetic polymorphisms for de novo nucleotide biosynthesis in northern Chinese population...

journal_title：Clinical genetics

authors： Jiang YC,Kuang LL,Sun SN,Duan WY,Qiao B,Wang HY

更新日期：2017-05-01 00:00:00

abstract：:The associations between characteristics of family relationships and family trends in cancer worry and the psychological adjustment of recipients of genetic testing for cancer susceptibility were investigated. Data provided by 178 individuals from 24 families with Lynch syndrome who participated in a cohort study inve...

journal_title：Clinical genetics

authors： Ashida S,Hadley DW,Vaughn BK,Kuhn NR,Jenkins JF,Koehly LM

更新日期：2009-01-01 00:00:00

abstract：:The incidence of pancreatic ductal adenocarcinoma (PDAC) is steadily increasing and the annual death-to-incidence ratio approaches one. This is a figure that has not changed for several decades. Surgery remains the only chance of cure; however, only less than 20% of patients are amenable to operative resection. Despit...

journal_title：Clinical genetics

authors： Graham JS,Jamieson NB,Rulach R,Grimmond SM,Chang DK,Biankin AV

更新日期：2015-09-01 00:00:00

abstract：:Two unrelated patients, aged 19 and 6 years, were studied and diagnosed as having Myhre syndrome (MS). This review, together with three previous cases, permits further delineation of MS. The main features are: short stature, mental retardation, blepharophimosis, muscular hypertrophy, decreased joint mobility, thick ca...

journal_title：Clinical genetics

authors： García-Cruz D,Figuera LE,Feria-Velazco A,Sánchez-Corona J,García-Cruz MO,Ramírez-Duenãs RM,Hernandez-Córdova A,Ruiz MX,Bitar-Alatorre WE,Ramírez-Dueñas ML

更新日期：1993-10-01 00:00:00

abstract：:Hereditary non-polyposis colorectal cancer (HNPCC), the most common type of hereditary colorectal cancer, is thought to be a simple Mendelian disease involving DNA mismatch repair genes. The majority of mutations associated with HNPCC occur in the hMSH2 and hMLH1 genes. The reported incidence of mismatch repair gene m...

journal_title：Clinical genetics

authors： Wei SC,Yu CY,Tsai-Wu JJ,Su YN,Sheu JC,Wu CH,Wang CY,Wong JM

更新日期：2003-09-01 00:00:00

abstract：:Pathogenic biallelic variants in the BLM/RECQL3 gene cause a rare autosomal recessive disorder called Bloom syndrome (BS). This syndrome is characterized by severe growth delay, immunodeficiency, dermatological manifestations and a predisposition to a wide variety of cancers, often multiple and very early in life. Lit...

journal_title：Clinical genetics

authors： Backers L,Parton B,De Bruyne M,Tavernier SJ,Van Den Bogaert K,Lambrecht BN,Haerynck F,Claes KBM

更新日期：2021-02-01 00:00:00

abstract：:A sequencing protocol for the acid beta-glucosidase (GCase) gene (GBA) was developed using a long-range PCR template. This protocol has an advantage of greater DNA yields over similar strategies. Seven Gaucher's disease patients had four novel and five other rare alleles. A non-pseudogene in-frame deletion (g.2600-260...

journal_title：Clinical genetics

authors： Zhao H,Keddache M,Bailey L,Arnold G,Grabowski G

更新日期：2003-07-01 00:00:00

abstract：:A 27-year-old male with hypomelanosis of Ito (HI) is reported. One of his two children had a postaxial ray defect of one leg but neither had cutaneous features of HI. Somatic mosaicism for a gene defect lethal to ectodermal derivatives offers the best explanation for HI in males, with consequent negligible recurrence ...

journal_title：Clinical genetics

authors： Moss C,Burn J

更新日期：1988-08-01 00:00:00

abstract：:Five sibs with related parents are presented. All the sibs have short atrioventricular conduction time (P-R interval). The short P-R interval is probably an inherited feature in the family. ...

journal_title：Clinical genetics

authors： Möller P

更新日期：1976-08-01 00:00:00

abstract：:In a sample of 79 pregnant women at risk offspring with neural tube defects (NTDs) and 158 controls, significantly increased median values were found for apo-transcobalamins I and II in amniotic fluid in the group at risk, thus confirming previous results. The findings may reflect a genetic disposition to NTDs associa...

journal_title：Clinical genetics

authors： Magnus P,Magnus EM,Berg K

更新日期：1991-04-01 00:00:00

abstract：:Charcot-Marie-Tooth disease (CMT) is classified into two types, the demyelinating (CMT1) and axonal forms (CMT2). CMT2 is further subdivided by linkage analysis into eight subgroups. Recently, mutations in the MFN2 gene, which encodes the mitochondrial GTPase mitofusin 2 (Mfn2) that regulates the mitochondrial network...

journal_title：Clinical genetics

authors： Cho HJ,Sung DH,Kim BJ,Ki CS

更新日期：2007-03-01 00:00:00

abstract：:We provide data on fetal growth pattern on the molecular subtypes of Beckwith-Wiedemann syndrome (BWS): IC1 gain of methylation (IC1-GoM), IC2 loss of methylation (IC2-LoM), 11p15.5 paternal uniparental disomy (UPD), and CDKN1C mutation. In this observational study, gestational ages and neonatal growth parameters of 2...

journal_title：Clinical genetics

authors： Mussa A,Russo S,de Crescenzo A,Freschi A,Calzari L,Maitz S,Macchiaiolo M,Molinatto C,Baldassarre G,Mariani M,Tarani L,Bedeschi MF,Milani D,Melis D,Bartuli A,Cubellis MV,Selicorni A,Silengo MC,Larizza L,Riccio A,Fe

更新日期：2016-07-01 00:00:00

abstract：:Erythropoietic protoporphyria (EPP) is a rare cutaneous and systemic disease caused by mutations in the ferrochelatase gene (FECH). The molecular underpinnings of EPP in Middle Eastern populations and relative to other ethnic groups secondary to increased consanguinity are unknown. To understand the molecular pathogen...

journal_title：Clinical genetics

authors： Kadara H,Nemer G,Safi R,Rebeiz N,Daou L,Delbani D,Btadini W,Abbas O,Tofaili M,Bitar F,Kibbi AG,Shimomura Y,Kurban M

更新日期：2017-11-01 00:00:00

abstract：:Non-mosaic males with a 46,XY karyotype and a MECP2 null mutation display a phenotype of severe neonatal-onset encephalopathy that is distinctly different from Rett syndrome (RTT). To increase awareness of this rare disorder, we are reporting novel findings in a sporadic case, compare them to 16 previously reported ca...

journal_title：Clinical genetics

authors： Schüle B,Armstrong DD,Vogel H,Oviedo A,Francke U

更新日期：2008-08-01 00:00:00