Cell line segregation in a 45,X/46,XY mosaic child with asymmetric leg growth.

abstract：:Hereditary motor and sensory neuropathy type Russe (HMSNR), also called CMT4G, is an autosomal recessive inherited peripheral neuropathy (IPN) caused by a founder mutation in the HK1 gene. HMSNR affects only patients with Roma origin, similar to the better known HMSN type Lom clarified earlier. By testing IPN patients...

journal_title：Clinical genetics

authors： Šafka Brožková D,Haberlová J,Mazanec R,Laštůvková J,Seeman P

更新日期：2016-08-01 00:00:00

abstract：:Twenty CF chromosomes from ten patients with mild adult form of cystic fibrosis were tested for delta F508. This mutation was found to be significantly less frequent than in the severe form of the disease. ...

journal_title：Clinical genetics

authors： Simon-Bouy B,Mornet E,Taillandier A,Serre JL,Boue J,Boue A

更新日期：1991-04-01 00:00:00

abstract：:Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal-recessive autoimmune disease caused by autoimmune regulator gene mutations. The aim of this study was to examine the mutation profile of Polish APECED patients, determine the carrier rate of the most frequent mutation(s) and estima...

journal_title：Clinical genetics

authors： Stolarski B,Pronicka E,Korniszewski L,Pollak A,Kostrzewa G,Rowińska E,Włodarski P,Skórka A,Gremida M,Krajewski P,Ploski R

更新日期：2006-10-01 00:00:00

abstract：:Transient neonatal diabetes mellitus (TNDM) usually develops within the first few weeks of life and resolves at a median age of 3 months. In most of the cases, TNDM is caused by the over-expression of a paternally expressed imprinted PLAGL1 locus on chromosome 6q24. The most frequent manifestation other than TNDM is i...

journal_title：Clinical genetics

authors： Suzuki S,Fujisawa D,Hashimoto K,Asano T,Maimaiti M,Matsuo K,Tanahashi Y,Mukai T,Fujieda K

更新日期：2010-12-01 00:00:00

abstract：:Catechol-O-methyltransferase (COMT) activity in erythrocytes was measured in six children with Down's syndrome and in their parents to determine if COMT activity is related to a gene on chromosome 21. A gene dosage effect was a possible explanation of the COMT value in three of the children but not in the other three....

journal_title：Clinical genetics

authors： Gustavson KH,Flodérus Y,Jagell S,Wetterberg L,Ross SB

更新日期：1982-07-01 00:00:00

abstract：:The Pakistani population has become an important resource for research on autosomal recessive non-syndromic hearing impairment (ARNSHI) due to the availability of large extended and highly consanguineous pedigrees. Here is presented the first report on the prevalence of gap junction beta-2 (GJB2) variants in Pakistan....

journal_title：Clinical genetics

authors： Santos RL,Wajid M,Pham TL,Hussan J,Ali G,Ahmad W,Leal SM

更新日期：2005-01-01 00:00:00

abstract：:A female child is described with multiple anomalies including epicanthus, frontal bossing, short sternum, polydactyly, cleft of the larynx, renal cysts, and unusual dermatoglyphics. She died aged 3 months and was found to have a unique de novo deletion of chromosome No. 4 (q22-q25). This case is compared with other lo...

journal_title：Clinical genetics

authors： Butler LJ,Palmer AV,Spencer T,Tabios-Broadway R,Wall WJ

更新日期：1987-04-01 00:00:00

abstract：:Sanfilippo syndrome (mucopolysaccharidosis type III) is the commonest mucoploysaccharidosis. It causes neurodegeneration with often profound sleep and behavioral disturbance. Management of the sleep disturbance is difficult and inconsistent. In this study, we surveyed clinicians with particular expertise in the manage...

journal_title：Clinical genetics

authors： Fraser J,Wraith JE,Delatycki MB

更新日期：2002-11-01 00:00:00

abstract：:A 36-year-old man with schizoaffective disorder was found to have a de novo 46 XY inv (9) (q31.2q34.3). Phenotypical abnormalities are short stature, depressed nasal bridge, hypertelorism and slender shoulders. Paracentric inversion of chromosome 9 is a rare chromosome aberration. This case suggests a new candidate re...

journal_title：Clinical genetics

authors： Inayama Y,Yoneda H,Fukushima K,Sakai J,Asaba H,Sakai T

更新日期：1997-01-01 00:00:00

abstract：:Over the past few years, we have conducted a systematic study of 230 cystic fibrosis (CF) chromosomes in the Saguenay Lac-Saint-Jean (SLSJ) population which has a high CF incidence (1/936 live births). We identified 11 mutations accounting for 100% of the CF chromosomes found in patients born in SLSJ. Our results indi...

journal_title：Clinical genetics

authors： De Braekeleer M,Mari C,Verlingue C,Allard C,Leblanc JP,Simard F,Aubin G,Férec C

更新日期：1998-01-01 00:00:00

abstract：:Apolipoprotein C3 (APOC3) mutations carriers typically display high plasma high-density lipoprotein cholesterol (HDL-C) and low triglycerides (TGs). We set out to investigate the prevalence and clinical consequences of APOC3 mutations in individuals with hyperalphalipoproteinemia. Two novel mutations (c.-13-2A>G and c...

journal_title：Clinical genetics

authors： Bochem AE,van Capelleveen JC,Dallinga-Thie GM,Schimmel AW,Motazacker MM,Tietjen I,Singaraja RR,Hayden MR,Kastelein JJ,Stroes ES,Hovingh GK

更新日期：2014-05-01 00:00:00

abstract：:Genetic heterogeneity has made the identification of genes related to hearing impairment a challenge. In the absence of a clear phenotypic aetiology, recurrence risk estimates are often based on family segregation and may be imprecise. We profiled by oligonucleotide array-CGH patients presenting non-syndromic hearing ...

journal_title：Clinical genetics

authors： Rosenberg C,Freitas ÉL,Uehara DT,Auricchio MTBM,Costa SS,Oiticica J,Silva AG,Krepischi AC,Mingroni-Netto RC

更新日期：2016-04-01 00:00:00

abstract：:Lee S-C, Guo J-Y, Lim R, Soo R, Koay E, Salto-Tellez M, Leong A, Goh B-C. Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. Hereditary non-polyposis colorectal cancer (HNPCC), predominantly due to germline MLH1/MSH2 mutations, is the commonest form of here...

journal_title：Clinical genetics

authors： Lee SC,Guo JY,Lim R,Soo R,Koay E,Salto-Tellez M,Leong A,Goh BC

更新日期：2005-08-01 00:00:00

abstract：:An aneuploid karyotype with an extra submetacentric C-group chromosome was observed in all metaphase cells in 5 of 24 primary amniotic fluid cell clones and in admixture with normal cells in two additional clones. Trisomy 8 was demonstrated by R-banding. The parents elected to terminate the pregnancy. Successful cultu...

journal_title：Clinical genetics

authors： Swisshelm K,Rodriguez ML,Luthy D,Salk D,Norwood T

更新日期：1981-10-01 00:00:00

abstract：:The determination of acetylcholinesterase (AChE) has been shown to be as specific as alphafetoprotein (AFP) for the prenatal detection of open neural tube defects although AFP remains the method of choice. This paper describes a semi-automated technique for the analysis of acetylcholinesterase in amniotic fluid that: ...

journal_title：Clinical genetics

authors： Elejalde BR,Peck G,de Elejalde MM

更新日期：1986-03-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) is a clinically and genetically heterogeneous fatal neurodegenerative disease. Around 10% of ALS cases are hereditary. ALS gene discoveries have provided most of our understanding of disease pathogenesis. We aimed to describe the genetic landscape of ALS in Australia by assessing 10...

journal_title：Clinical genetics

authors： McCann EP,Williams KL,Fifita JA,Tarr IS,O'Connor J,Rowe DB,Nicholson GA,Blair IP

更新日期：2017-09-01 00:00:00

abstract：:The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are 2 rare but clinically well-described diseases caused by de novo heterozygous sequence variants in the KAT6B gene. Both phenotypes are characterized by significant global developmental delay/intellectual dis...

journal_title：Clinical genetics

authors： Lonardo F,Lonardo MS,Acquaviva F,Della Monica M,Scarano F,Scarano G

更新日期：2019-02-01 00:00:00

abstract：:Approximately one in 2000 children is born with a genetic hearing impairment, mostly inherited as a non-syndromic, autosomal recessive trait, for which more than 30 different genes have been identified. Previous studies have shown that one of these genes, connexin 26 (GJB2), accounts for 30-60% of such deafness, but t...

journal_title：Clinical genetics

authors： Hutchin T,Coy NN,Conlon H,Telford E,Bromelow K,Blaydon D,Taylor G,Coghill E,Brown S,Trembath R,Liu XZ,Bitner-Glindzicz M,Mueller R

更新日期：2005-12-01 00:00:00

abstract：:Germline mutations in succinate dehydrogenase B (SDHB) predispose to hereditary paraganglioma (PGL) syndrome type 4. The risk of developing PGL or pheochromocytoma (PHEO) in SDHB mutation carriers is subject of recent debate. In the present nationwide cohort study of SDHB mutation carriers identified by the clinical g...

journal_title：Clinical genetics

authors： Rijken JA,Niemeijer ND,Jonker MA,Eijkelenkamp K,Jansen JC,van Berkel A,Timmers HJLM,Kunst HPM,Bisschop PHLT,Kerstens MN,Dreijerink KMA,van Dooren MF,van der Horst-Schrivers ANA,Hes FJ,Leemans CR,Corssmit EPM,Hensen EF

更新日期：2018-01-01 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：:We report on a consanguineous family with 6 children (out of 7) affected by a spondylo-ocular syndrome. Clinical features include cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, immobile spine with thorakal kyphosis and reduced l...

journal_title：Clinical genetics

authors： Schmidt H,Rudolph G,Hergersberg M,Schneider K,Moradi S,Meitinger T

更新日期：2001-02-01 00:00:00

abstract：:Mutations in the NPC1 or NPC2 gene are responsible for Niemann-Pick type C (NPC) disease (OMIM #257220), an autosomal recessive neurodegenerative lysosomal storage disorder caused by an incorrect regulation of intracellular lipid trafficking. A molecular analysis carried out in 30 unrelated patients identified 43 dist...

journal_title：Clinical genetics

authors： Macías-Vidal J,Rodríguez-Pascau L,Sánchez-Ollé G,Lluch M,Vilageliu L,Grinberg D,Coll MJ,Spanish NPC Working Group.

更新日期：2011-07-01 00:00:00

abstract：:Heterozygotes of autosomal-recessive diseases can often be recognized by special heterozygote tests, since enzyme activities are normally reduced in comparison with the normal homozygote state. In Drosophila, the majority of recessive lethal mutations shows a reduction of fitness in heterozygotes, whereas in a strong ...

journal_title：Clinical genetics

authors： Vogel F

更新日期：1984-05-01 00:00:00

abstract：:We assessed the association between breast cancer (BC) and colorectal cancer (CRC) from referral pattern to the Regional Genetics Service including molecular analysis. Hospital computer records and/or department referral books were used to identify cases referred to the Regional Genetic Service during a 16-year period...

journal_title：Clinical genetics

authors： Naseem H,Boylan J,Speake D,Leask K,Shenton A,Lalloo F,Hill J,Trump D,Evans DG

更新日期：2006-11-01 00:00:00

abstract：:Two siblings born to consanguineous Bedouin parents and grandparents are reported with the phenotypic features of Ehlers-Danlos Syndrome (EDS), type VI. In addition, the affected individuals have a polyneuropathy as confirmed by nerve conduction velocity, electromyographic and muscle biopsy studies. We propose that th...

journal_title：Clinical genetics

authors： Farag TI,Schimke RN

更新日期：1989-02-01 00:00:00

abstract：:Few studies have investigated the frequency of hereditary non-polyposis colorectal cancer (HNPCC) in patients with colorectal cancer (CRC), and these have shown marked geographic variations. The aim of this study was to estimate the frequency of HNPCC in a cohort of Uruguayan CRC patients. We included all patients ope...

journal_title：Clinical genetics

authors： Sarroca C,Valle AD,Fresco R,Renkonen E,Peltömaki P,Lynch H

更新日期：2005-07-01 00:00:00

abstract：:A 28-year-old woman who complained of irregular menstruation was diagnosed as suffering from trisomy 18 mosaicism. She was karyotyped because of her characteristic face, mild mental retardation and aberrant hyperpigmentation of the skin. Her motor function was within normal range. Physical and laboratory examinations,...

journal_title：Clinical genetics

authors： Uehara S,Obara Y,Obara T,Funato T,Yaegashi N,Fukaya T,Yajima A

更新日期：1996-02-01 00:00:00

abstract：:Plasma from 158 presumed healthy nuclear families has been analyzed by high-resolution, two-dimensional electrophoresis to study the frequency and effects of the genetic polymorphism in human apolipoprotein A-IV. Two common alleles, apo A-IV 1 and apo A-IV 2 were detected with relative frequencies of 0.943 and 0.057, ...

journal_title：Clinical genetics

authors： Visvikis S,Steinmetz J,Boerwinkle E,Gueguen R,Galteau MM,Siest G

更新日期：1990-06-01 00:00:00

abstract：:In this report, we describe a male infant with a 45,X karyotype; the entire short arm and the centromere of the Y chromosome were translocated onto the short arm of chromosome 18, resulting in an unbalanced dicentric chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal Y...

journal_title：Clinical genetics

authors： Gimelli G,Cinti R,Varone P,Naselli A,Di Battista E,Pezzolo A

更新日期：1996-01-01 00:00:00

abstract：:In a clinical setting diagnosis, heritability, risk and outcome of human disease rely heavily on the use of markers present in specific tissues. In the past decade, the development of genome-wide, non-hypothesis driven methods to identify molecular markers associated with disease have led to the discovery of numerous ...

journal_title：Clinical genetics

authors： Zaina S,Lund G

更新日期：2012-04-01 00:00:00