Partial trisomy 17p detected by spectral karyotyping.

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：:A seven-generation pedigree of apparent X-linked, nonspecific mental retardation is reported. There are 19 known affected males who appear to have received the gene through normal mothers. Retardation, lack of fine motor coordination, hyperactivity and a speech defect are the characteristics of affected individuals st...

journal_title：Clinical genetics

authors： Yarbrough KM,Howard-Peebles PN

更新日期：1976-02-01 00:00:00

abstract：:A low arylsulphatase A activity was noted in the leukocytes and cultured skin fibroblasts of a child without any other symptoms of metachromatic leukodystrophy. Although the mother had a level of arylsulphatase commensurate with heterozygosity for the classical metachromatic leukodystrophy gene, the father had a vari...

journal_title：Clinical genetics

authors： Butterworth J,Broadhead DM,Keay AJ

更新日期：1978-10-01 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：:Two brothers, products of a consanguineous marriage, had severe hypoplastic genitalia and cardiomyopathy. These findings are similar to those of three other brothers of another consanguineous family who in addition had evidence of mental retardation. These five boys probably represent a previously undescribed syndrome...

journal_title：Clinical genetics

authors： Najjar SS,Der Kaloustian VM,Ardati KO

更新日期：1984-10-01 00:00:00

abstract：:The presence of Y chromosome sequences in Turner syndrome (TS) patients may predispose them to gonadoblastoma formation with an estimated risk of 15-25%. The aim of this study was to determine the presence and the incidence of cryptic Y chromosome material in the genome of TS patients. The methodology involved a combi...

journal_title：Clinical genetics

authors： Patsalis PC,Sismani C,Hadjimarcou MI,Kitsiou-Tzeli S,Tzezou A,Hadjiathanasiou CG,Velissariou V,Lymberatou E,Moschonas NK,Skordis N

更新日期：1998-04-01 00:00:00

abstract：:A study of the family of a patient who had an SLE-like syndrome and an extremely low serum C4 revealed an inheritance of C4 types and HLA region markers which indicated that the patient had 60--70% of "normal" C4 level prior to the onset of disease. Thus the extremely low C4 level during her disease may result from a ...

journal_title：Clinical genetics

authors： Cream JJ,Olaisen B,Teisberg P,Soler AV,Thompson RA

更新日期：1979-11-01 00:00:00

abstract：:The aim of this study was to search for SLC40A1 mutations in iron overloaded patients, which tested negative for HFE mutations and other iron-related genes. After a careful differential diagnosis, we selected 56 patients with unexplained iron overload whose phenotype could suggest the ferroportin disease. Iron overloa...

journal_title：Clinical genetics

authors： Pelucchi S,Mariani R,Salvioni A,Bonfadini S,Riva A,Bertola F,Trombini P,Piperno A

更新日期：2008-02-01 00:00:00

abstract：:Second trimester amniotic fluid samples obtained transabdominally for genetic analysis not infrequently are contaminated with blood. There has been disagreement as to whether blood contamination interferes with the efficiency of culture of amniotic fluid cells for genetic diagnosis. A procedure using ammonium chloride...

journal_title：Clinical genetics

authors： Felix JS,Doherty RA

更新日期：1979-03-01 00:00:00

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：:The D/I (deletion, D, insertion, I) polymorphism of the angiotensin-converting enzyme (ACE) gene has been extensively studied for its association with a number of cardiovascular and other disease states. However, its potential association with differential clinical efficacy of ACE inhibitors (ACE-I) administered to pa...

journal_title：Clinical genetics

authors： Zee RY,Solomon SD,Ajani UA,Pfeffer MA,Lindpaintner K,Heart investigators.

更新日期：2002-01-01 00:00:00

abstract：:This brief account of Woody Guthrie is instructive to clinical geneticists. It tells the story of one famous man's understanding of, and struggle with, Huntington's disease. The philatelic illustration depicts Woody Guthrie playing his guitar in the years before advancement of the disease. ...

journal_title：Clinical genetics

authors： Innes AM,Chudley AE

更新日期：2002-04-01 00:00:00

abstract：:Despite a wide range of clinical tools, the etiology of mental retardation and multiple congenital malformations remains unknown for many patients. Array-based comparative genomic hybridization (aCGH) has proven to be a valuable tool in these cases, as its pangenomic coverage allows the identification of chromosomal a...

journal_title：Clinical genetics

authors： D'Amours G,Kibar Z,Mathonnet G,Fetni R,Tihy F,Désilets V,Nizard S,Michaud JL,Lemyre E

更新日期：2012-02-01 00:00:00

abstract：:The canonical wingless (Wnt) and fibroblast growth factor (FGF) signaling pathways involving CTNNB1 and TBX4, respectively, are crucial for the regulation of human development. Perturbations of these pathways and disruptions from biological homeostasis have been associated with abnormal morphogenesis of multiple organ...

journal_title：Clinical genetics

authors： Karolak JA,Szafranski P,Kilner D,Patel C,Scurry B,Kinning E,Chandler K,Jhangiani SN,Coban Akdemir ZH,Lupski JR,Popek E,Stankiewicz P

更新日期：2019-10-01 00:00:00

abstract：:Only 47 of 61 (77%) medical students were selected as sperm donors for artificial insemination. Fourteen were excluded because of family history 1, eye disorders 7, oligospermia 5, permanent structural chromosome aberration 1. ...

journal_title：Clinical genetics

authors： Czeizel A,Szentesi I,Horváth L

更新日期：1983-08-01 00:00:00

abstract：:A large variety of mutations within the genes encoding hepcidin (HAMP) and hemojuvelin (HJV) have been identified in patients with the severe iron overload disorder juvenile hemochromatosis (JH). The aim of the present study was to evaluate the molecular background of JH in patients from central parts of Europe. Seque...

journal_title：Clinical genetics

authors： Gehrke SG,Pietrangelo A,Kascák M,Braner A,Eisold M,Kulaksiz H,Herrmann T,Hebling U,Bents K,Gugler R,Stremmel W

更新日期：2005-05-01 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：:Adenosine diphosphate (ADP)-ribosylation factor-like 2 (ARL2) protein participates in a broad range of cellular processes and acts as a mediator for mutant ARL2BP in cilium-associated retinitis pigmentosa and for mutant HRG4 in mitochondria-related photoreceptor degeneration. However, mutant ARL2 has not been linked t...

journal_title：Clinical genetics

authors： Cai XB,Wu KC,Zhang X,Lv JN,Jin GH,Xiang L,Chen J,Huang XF,Pan D,Lu B,Lu F,Qu J,Jin ZB

更新日期：2019-07-01 00:00:00

abstract：:A dysmorphic child was found by cytogenetic analysis to have an extra small marker chromosome. The marker chromosome was shown to possess a chromosome 18 centromere by in situ hybridization, and probably represents an isochromosome 18p. Centromere specific probes should be of value in identifying extra small marker ch...

journal_title：Clinical genetics

authors： Blennow E,Nielsen KB

更新日期：1991-06-01 00:00:00

abstract：:Red hair color (RHC) was studied in a Danish material of normal families that was tested earlier for 65 marker systems. We found 4.85% of the parents to be red-haired or to have been so early in life. Scoring RHC for linkage as an autosomal dominant against blond and as hypostatic to dark hair gave a lod score of z = ...

journal_title：Clinical genetics

authors： Eiberg H,Mohr J

更新日期：1987-08-01 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 16-year-old boy, born to consanguineous parents, with mental retardation, gait disturbances and dysarthria; brain magnetic resonance showed features consistent with rhombencephalosynapsis. This condition is characterised by a hypoplastic single-lobed cerebellum. The interest of this case is the presence of...

journal_title：Clinical genetics

authors： Romanengo M,Tortori-Donati P,Di Rocco M

更新日期：1997-09-01 00:00:00

abstract：:GNE myopathy or hereditary inclusion body myopathy (HIBM) is an ultra-rare severely disabling autosomal recessive adult onset muscle disease which affects roughly one to three individuals per million worldwide. Genetically, HIBM is caused by mutations in the glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine k...

journal_title：Clinical genetics

authors： Khademian H,Mehravar E,Urtizberea J,Sagoo S,Sandoval L,Carbajo R,Darvish B,Valles-Ayoub Y,Darvish D

更新日期：2013-12-01 00:00:00

abstract：:Array comparative genomic hybridization (aCGH) has progressively replaced conventional karyotype in the diagnostic strategy of intellectual disability (ID) and congenital malformations. This technique increases not only the diagnostic rate but also the possibility of finding unexpected variants unrelated to the indica...

journal_title：Clinical genetics

authors： Nguyen K,Putoux A,Busa T,Cordier MP,Sigaudy S,Till M,Chabrol B,Michel-Calemard L,Bernard R,Julia S,Malzac P,Labalme A,Missirian C,Edery P,Popovici C,Philip N,Sanlaville D

更新日期：2015-05-01 00:00:00

abstract：:We investigated whether an association exists between genetic variants of the human obesity (OB or leptin) gene and body mass index (BMI) or weight in subjects with Prader Willi syndrome (PWS) and in age- and gender-matched lean and obese subjects without PWS. The study included 51 subjects with PWS (mean age = 17.7 +...

journal_title：Clinical genetics

authors： Butler MG,Hedges L,Hovis CL,Feurer ID

更新日期：1998-11-01 00:00:00

abstract：:Apolipoprotein B (apoB) signal peptide (sp) polymorphism was characterized by polymerase chain reaction in blood samples of 58 coronary artery disease (CAD) patients and 319 control individuals of Chinese Han ethnic origin in Taiwan. In the CAD group, 77% of the observed alleles were sp27 (sp with 27 amino acids), and...

journal_title：Clinical genetics

authors： Wu JH,Wen MS,Lo SK,Chern MS

更新日期：1994-05-01 00:00:00

abstract：:Marfan syndrome (MFS) is an autosomal dominant disorder of the fibrous connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Although clinical and genetic analyses have been performed in various populations, there have been few studies in Korea. The aim of this study was to investigate the clinical cha...

journal_title：Clinical genetics

authors： Yoo EH,Woo H,Ki CS,Lee HJ,Kim DK,Kang IS,Park P,Sung K,Lee CS,Chung TY,Moon JR,Han H,Lee ST,Kim JW

更新日期：2010-02-01 00:00:00

abstract：:A photoanthropometric method, which enables an objective description of facial structures, was used to better delineate the craniofacial characteristics of 29 individuals with Williams syndrome (WS; 18 males and 11 females) between the ages of 0 to 10 years, with an average age of 4.0 years. Facial parameters were mea...

journal_title：Clinical genetics

authors： Hovis CL,Butler MG

更新日期：1997-06-01 00:00:00

abstract：:Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies. Both autosomal dominant and autosomal recessive patterns of inheritance have been reported. ...

journal_title：Clinical genetics

authors： Roifman M,Marcelis CL,Paton T,Marshall C,Silver R,Lohr JL,Yntema HG,Venselaar H,Kayserili H,van Bon B,Seaward G,FORGE Canada Consortium.,Brunner HG,Chitayat D

更新日期：2015-01-01 00:00:00

abstract：:Successful fertilization is fundamental for sexual reproduction. After undergoing a series of molecular and morphological changes, the haploid sperm fuses with the haploid oocyte to create a diploid zygote. Defects in this process might lead to human fertilization failure. We have previously found homozygous mutations...

journal_title：Clinical genetics

authors： Zhang Z,Mu J,Zhao J,Zhou Z,Chen B,Wu L,Yan Z,Wang W,Zhao L,Dong J,Sun X,Kuang Y,Li B,Wang L,Sang Q

更新日期：2019-04-01 00:00:00