Germ-line mosaicism in Waardenburg syndrome.

abstract：:Two patients are reported who presented with 4q deletion and r(4), respectively. Cytogenetic and FISH analysis defined the breakpoints respectively at bands 4q33-->q35 proximal to the telomere, and 4pter and 4q35.2 qter. Moreover in both cases rearranged chromosomes maintained telomeric sequences. The first patient sh...

journal_title：Clinical genetics

authors： Calabrese G,Giannotti A,Mingarelli R,Di Gilio MC,Piemontese MR,Palka G

更新日期：1997-04-01 00:00:00

abstract：:Three siblings with a combination of sensorineural deafness and the Charcot-Marie-Tooth syndrome have been investigated in a consanguineous Indian kindred. This syndrome, which to the best of our knowledge has not previously been reported, is probably inherited as an autosomal recessive trait. ...

journal_title：Clinical genetics

authors： Cornell J,Sellars S,Beighton P

更新日期：1984-02-01 00:00:00

abstract：:Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two congenital disorders with opposite outcomes on fetal growth, overgrowth and growth restriction, respectively. Although both disorders are heterogeneous, most cases of BWS and SRS are associated with opposite epigenetic or genetic abnormalities...

journal_title：Clinical genetics

authors： Jacob KJ,Robinson WP,Lefebvre L

更新日期：2013-10-01 00:00:00

abstract：:The nitric oxide synthase (NOS) gene is thought to be associated with essential hypertension (EH), because NO is implicated in endothelium-mediated vasodilation. We investigated the possible association between the alleles of simple tandem repeat DNA polymorphism of the endothelial constitutive NOS (cNOS) gene and EH ...

journal_title：Clinical genetics

authors： Nakayama T,Soma M,Takahashi Y,Izumi Y,Kanmatsuse K,Esumi M

更新日期：1997-01-01 00:00:00

abstract：:Adverse drug reactions, due at least in part to interindividual variability in drug response, rank between the 4th and 6th leading causes of death in the USA. The field of 'pharmacogenetics', which is 'the study of variability in drug response due to heredity', should help in reducing drug-caused morbidity and mortali...

journal_title：Clinical genetics

authors： Nebert DW

更新日期：1999-10-01 00:00:00

abstract：:Four unrelated French cases of familial amyloid polyneuropathy are reported. Clinical onset ranged from the sixth to the ninth decade. Sensory signs were predominant initially in the lower limbs; motor changes, and in one case autonomic involvement, appeared later. Amyloid disease was clinically limited to the periphe...

journal_title：Clinical genetics

authors： Grateau G,Adams D,Malapert D,Viemont M,Delpech M,Said G

更新日期：1993-03-01 00:00:00

abstract：:We describe the genotypes of the complete cohort, from 1967 to 2014, of phenylketonuria (PKU) patients in Denmark, in total 376 patients. A total of 752 independent alleles were investigated. Mutations were identified on 744 PKU alleles (98.9%). In total, 82 different mutations were present in the cohort. The most fre...

journal_title：Clinical genetics

authors： Bayat A,Yasmeen S,Lund A,Nielsen JB,Møller LB

更新日期：2016-09-01 00:00:00

abstract：:Cystic fibrosis in the northern sector of the French "département" of Finistère is 1:1787 live births. Within this sector a concentration of the disease was found in a small area. The minimal frequency in this area, from 1946 to 1972, was calculated as 1 per 377 live births, the gene frequency being 0.0515. Genealogic...

journal_title：Clinical genetics

authors： Bois E,Feingold J,Demenais F,Runavot Y,Jehanne M,Toudic L

更新日期：1978-08-01 00:00:00

abstract：:We report a case of trisomy 13 with cystic hygroma and generalized hydrops fetalis diagnosed prenatally by routine ultrasound prior to genetic amniocentesis in a 34-year-old woman. Although fetal cystic hygroma is usually associated with a 45,X karyotype, this and other previous reports suggest that it may be seen in ...

journal_title：Clinical genetics

authors： Greenberg F,Carpenter RJ,Ledbetter DH

更新日期：1983-11-01 00:00:00

abstract：:Biallelic mutations in the PLCB1 gene, encoding for a phospholipase C beta isoform strongly expressed in the brain, have been reported to cause infantile epileptic encephalopathy in only four children to date. We report here three additional patients to delineate the phenotypic and genotypic characteristics of the dis...

journal_title：Clinical genetics

authors： Desprairies C,Valence S,Maurey H,Helal SI,Weckhuysen S,Soliman H,Mefford HC,Spentchian M,Héron D,Leguern E,Nava C,Bouilleret V,Moretti R,Mignot C

更新日期：2020-03-01 00:00:00

abstract：:This report concerns two patients with clinical features typical for tetrasomy 18p syndrome. Chromosomal analysis revealed a male karyotype in both cases, with an additional small metacentric marker chromosome, putatively an i(18p). Fluorescent in situ hybridization with a chromosome 18-specific paint confirmed that t...

journal_title：Clinical genetics

authors： Back E,Toder R,Voiculescu I,Wildberg A,Schempp W

更新日期：1994-06-01 00:00:00

abstract：:Acrodysostosis is characterized by a peripheral dysostosis that is accompanied by short stature, midface hypoplasia, and developmental delay. Recently, it was shown that heterozygous point mutations in the PRKAR1A gene cause acrodysostosis with hormone resistance. By mutational analysis of the PRKAR1A gene we detected...

journal_title：Clinical genetics

authors： Muhn F,Klopocki E,Graul-Neumann L,Uhrig S,Colley A,Castori M,Lankes E,Henn W,Gruber-Sedlmayr U,Seifert W,Horn D

更新日期：2013-12-01 00:00:00

abstract：:Mutations in the L1CAM gene cause neurological abnormalities of variable severity, including congenital hydrocephalus, agenesis of the corpus callosum, spastic paraplegia, bilaterally adducted thumbs, aphasia, and mental retardation. Inter- and intrafamilial variability is a well-known feature of the L1CAM spectrum, a...

journal_title：Clinical genetics

authors： Basel-Vanagaite L,Straussberg R,Friez MJ,Inbar D,Korenreich L,Shohat M,Schwartz CE

更新日期：2006-05-01 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：:A psoriatic osteoarthropathy localized in the left quadrant of a male patient is described. Diagnosis was made on the basis of bone scintigraphy (specific distribution pattern) and histological evaluation of a bone biopsy. There is no indication of psoriasis in the patient's family. Nor is there an association to psor...

journal_title：Clinical genetics

authors： Holzmann H,Schmitt M,Happle R,Kaltwasser P,Hör G

更新日期：1994-08-01 00:00:00

abstract：:A study of Huntington's Chorea in South Wales has shown a prevalence of 7.61 per 100,000 in the counties of Gwent and Glamorgan, with a total population of 1.7 million. Heterozygote frequency is close to 1 in 5,000. Total ascertainment within this area has been attempted, and experience since conclusion of the study h...

journal_title：Clinical genetics

authors： Walker DA,Harper PS,Wells CE,Tyler A,Davies K,Newcombe RG

更新日期：1981-04-01 00:00:00

abstract：:Mitochondrial disorders (MDs) are caused by defects in 1 or multiple complexes of the oxidative phosphorylation (OXPHOS) machinery. MDs are associated with a broad range of clinical signs and symptoms, and have considerable clinical overlap with other neuromuscular syndromes. This overlap might be due to involvement o...

journal_title：Clinical genetics

authors： Panneman DM,Smeitink JA,Rodenburg RJ

更新日期：2018-05-01 00:00:00

abstract：BACKGROUND:Array-comparative genomic hybridization (array-CGH) is a widely used technique to detect copy number variants (CNVs) associated with developmental delay/intellectual disability (DD/ID). AIMS:Identification of genomic disorders in DD/ID. MATERIALS AND METHODS:We performed a comprehensive array-CGH investiga...

journal_title：Clinical genetics

authors： Di Gregorio E,Riberi E,Belligni EF,Biamino E,Spielmann M,Ala U,Calcia A,Bagnasco I,Carli D,Gai G,Giordano M,Guala A,Keller R,Mandrile G,Arduino C,Maffè A,Naretto VG,Sirchia F,Sorasio L,Ungari S,Zonta A,Zacchetti

更新日期：2017-10-01 00:00:00

abstract：:Genetic counseling and DNA testing (GCT) for breast cancer is increasingly being actively offered to newly diagnosed patients. Little is known about the consequences of such an approach. Therefore, the long-term psychosocial and medical impact of referring breast cancer patients for GCT during an early phase of treatm...

journal_title：Clinical genetics

authors： Baars JE,Bleiker EM,van Riel E,Rodenhuis CC,Velthuizen ME,Schlich KJ,Ausems MG

更新日期：2014-06-01 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：:Chromosome displays and listings are presented showing loci whose position is known in both man and mouse, in similar manner to our previous report (Dalton et al. 1981). There is now evidence for at least 27 conserved autosomal segments with two or more loci in the two species. The human and mouse chromosome maps show...

journal_title：Clinical genetics

authors： Buckle VJ,Edwards JH,Evans EP,Jonasson JA,Lyon MF,Peters J,Searle AG,Wedd NS

更新日期：1984-07-01 00:00:00

abstract：:The effects of apolipoprotein (apo) A-IV genotype on serum glucose, total cholesterol, low density lipoprotein (LDL) cholesterol, high density lipoprotein (HDL) cholesterol, triglyceride and glucose concentrations were ascertained in a population of 373 men and 361 women with a mean age of about 57 years. Subjects wer...

journal_title：Clinical genetics

authors： Larson IA,Ordovas JM,Sun Z,Barnard,Lohrmann J,Feussner G,Lamon-Fava S,Schaefer EJ

更新日期：2002-06-01 00:00:00

abstract：:Use of an intragenic BamHI restriction fragment length polymorphism within the 5' end of the retinoblastoma gene (RB1) provided improved genetic counselling for five familial and ten non-familial retinoblastoma patients and their relatives. All other polymorphic probes within RB1 were uninformative in three families, ...

journal_title：Clinical genetics

authors： Goddard AD,Phillips RA,Greger V,Passarge E,Höpping W,Zhu XP,Gallie BL,Horsthemke B

更新日期：1990-02-01 00:00:00

abstract：:Therapeutic abortions were performed in two cases of spina bifida which were diagnosed by determination of the lafa fetoprotein levels in the amniotic fluid and maternal serum. ...

journal_title：Clinical genetics

authors： Malmqvist E,Lindsten J,Nøorgaard-Pedersen B,Hellström B,Sundberg B

更新日期：1975-02-01 00:00:00

abstract：:Phytohaemagglutinin induces interferon-gamma synthesis in lymphocyte cultures from healthy individuals. We report two sibs with recurrent infections, selective IgA deficiency, and reduced blast transformation index under PHA-stimulation, without interferon-gamma response. ...

journal_title：Clinical genetics

authors： Tzoneva M,Ganev V,Galabov A,Georgieva K

更新日期：1988-06-01 00:00:00

abstract：:A total of 509 specimens of spontaneous abortion were studied. Of 364 complete specimens, 15 (4.1%) had central nervous system (CNS) abnormalities. The defects which were seen were anencephaly, spina bifida, iniencephaly, encephalocele and anencephaly combined with complete rachischisis. A high proportion (five out of...

journal_title：Clinical genetics

authors： Bell JE,Gosden CM

更新日期：1978-05-01 00:00:00

abstract：:One hundred and eighty-one male and 48 female myocardial infarction (MI) survivors and 172 male and 194 female controls were studied with respect to a possible association between premature parental MI (before age 61 years in mothers and/or before age 56 years in fathers) and an insertion/deletion (I/D) polymorphism i...

journal_title：Clinical genetics

authors： Bøhn M,Berge KE,Bakken A,Erikssen J,Berg K

更新日期：1993-12-01 00:00:00

abstract：:The Ehlers-Danlos syndromes (EDS) and associated hypermobility spectrum disorders (HSD) are a heterogenous group of connective tissue disorders associated with significant morbidity. The urogenital aspects of these disorders are understudied and there is little guidance on the prevalence, types, or outcomes of urogeni...

journal_title：Clinical genetics

authors： Gilliam E,Hoffman JD,Yeh G

更新日期：2020-01-01 00:00:00

abstract：:This report describes a 46,XY phenotypic female infant with absent uterus, probable agonadism, and bilateral upper amelia. The constellation of anomalies is similar to that of the patient described by Temoçin et al. (Acta Paediatr Jpn 1997: 39: 631-633), and may suggest a developmental link between genital region and ...

journal_title：Clinical genetics

authors： Ohro Y,Suzuki Y,Tsutsumi Y,Ogata T

更新日期：1998-07-01 00:00:00

abstract：:The advent of whole-exome next-generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½-year old female patient with a 2-year histo...

journal_title：Clinical genetics

authors： Hanchard NA,Murdock DR,Magoulas PL,Bainbridge M,Muzny D,Wu Y,Wang M,Lupski JR,Gibbs RA,Brown CW

更新日期：2013-05-01 00:00:00