Abstract：
:The concurrence of a short arm isochromosome and a translocation of the entire long arm of the same chromosome to a telomere of another chromosome, implying trisomy for 4p, 5p, 7p, 9p, 10p or 12p, has been described in 13 patients. We have now used fluorescence in situ hybrization (FISH) to better characterize one of these rearrangements in which 12q was translocated to 8pter, whereas 12p was converted into an isochromosome. An alphoid centromere-12 repeat gave a strong signal on the i( 2p) and a weak but distinct signal at the breakpoint junction of the der(8), whereas the pantelomeric probe revealed three clear hybridization sites on the der(8): one at each end and another at the breakpoint junction. These findings suggest that the prime event was a post-fertilization centric fission of chromosome 12 leading to the 12q translocation via a real centromere telomere fusion and the i(12p). Alternatively, the crucial event may have been a centromere telomere recombination. An interstitial telomere has been documented by means of FISH at the breakpoint junction of the sole derivative usually present in 20 constitutional translocations including eight with a jumping behavior. In addition, six other telomeric translocations defined by banding methods, including another case of 12q translocation/i(12p), have also been jumping ones. These telomeric translocations have been de noro events and their proneness to exhibit a jumping behavior appears to be independent of the involved chromosomes, size of the translocated segments, and concomitant abnormalities.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Rivera H,Vásquez AI,Perea FJdoi
10.1034/j.1399-0004.1999.550209.xsubject
Has Abstractpub_date
1999-02-01 00:00:00pages
122-6issue
2eissn
0009-9163issn
1399-0004journal_volume
55pub_type
杂志文章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
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1989.tb02916.x
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
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2005.00458.x
更新日期：2005-07-01 00:00:00
abstract：:In a country-wide screening examination in Sweden, PKU was observed in 75 (4.5 per 1,000) and hyperphenylalaninemia in 14 (0.8 per 1,000) of a total of 16,805 patients in institutions for the mentally retarded. In the national neonatal screening program in 1965-1975, which covered nearly 1 million individuals, PKU was...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1976.tb00054.x
更新日期：1976-12-01 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
pub_type： 传,历史文章,杂志文章
doi：10.1034/j.1399-0004.2002.610404.x
更新日期：2002-04-01 00:00:00
abstract：:Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. Three genes are implicated in causing ADPKD. One on chromosome 16, PKD1, accounts for 85-90% of al...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1996.tb02339.x
更新日期：1996-07-01 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
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1976.tb01557.x
更新日期：1976-02-01 00:00:00
abstract：:We describe a pedigree in which four male members are affected by a contiguous gene abnormality involving the short arm of the X chromosome (Xp22.32). Bivariate flow cytometry of lymphoblastoid cell lines from two of these individuals and a normal male showed a 6-7 megabase deletion in affected males, and high resolut...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1993.tb04442.x
更新日期：1993-04-01 00:00:00
abstract：:The physician-patient relationship was governed for centuries by the ethical principle of beneficence and the physician's dedication to the principle of doing no harm. This structure shifted, however, to the principle of personal autonomy as medical and surgical knowledge expanded and patients, rather than physicians,...
journal_title：Clinical genetics
pub_type： 历史文章,杂志文章,评审
doi：10.1111/j.1399-0004.2004.00324.x
更新日期：2005-01-01 00:00:00
abstract：:Thirty-six families with tuberous sclerosis (TS) including 49 affected persons and 68 apparently unaffected first-degree relatives were examined for dental abnormality. Fifty unrelated controls were similarly examined. Clinically observed multiple enamel pits (pitted enamel hypoplasia) were noted in 71% of persons wit...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1987.tb03304.x
更新日期：1987-10-01 00:00:00
abstract：:A unique substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen was identified in a proband with Ehlers-Danlos syndrome type IV. The substitution was due to the transition of G 3302 to A in alpha 1(III) cDNA which is encoded by exon 46 of COL3A1. It resulted in a severe deficien...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1996.tb02709.x
更新日期：1996-12-01 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
pub_type： 杂志文章
doi：10.1111/cge.12080
更新日期：2013-12-01 00:00:00
abstract：:Major histocompatibility complex (MHC) haplotypes, including HLA-A, -B, -C and -DR and complotypes (BF, C2, C4A and C4B) were determined in a large family with inherited C4 deficiency. The propositus, a 12-year-old girl with complete C4 deficiency and SLE, had the MHC haplotypes HLA-A2,Cw3,-B40,-DR6,BFS,C2C,C4AQO,C4AB...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1985.tb02211.x
更新日期：1985-11-01 00:00:00
abstract：:Cutis laxa (CL) syndromes comprise a rare group of multisystem disorders that share loose redundant skin folds as hallmark clinical feature. CL results from impaired elastic fiber assembly and homeostasis, and the known underlying gene defects affect different extracellular matrix proteins, intracellular trafficking, ...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1111/cge.13865
更新日期：2021-01-01 00:00:00
abstract：:Extended genealogical studies stretching back to the 17th century were performed concerning the heredity patterns of vitreous involvement in Swedish patients with familial amyloidotic polyneuropathy (FAP). FAP is an autosomal dominant inherited disorder, characterized by extracellular deposition of amyloid and a clini...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1991.tb03117.x
更新日期：1991-12-01 00:00:00
abstract：:Twenty-five novel mutations including duplications in the ATP7A gene. Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficiency disorders resulting from ATP7A gene mutations. MD is a severe condition leading to progressive neurological degeneration and death in early childh...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2010.01461.x
更新日期：2011-03-01 00:00:00
abstract：:Here we report two families with myotonic dystrophy (DM) in which the asymptomatic parent proved to be in a pre-mutation state. Polymerase chain reaction (PCR) analysis of the region spanning the CTG expansion demonstrated that one father of the proband possessed (CTG)n repeats of n = 12 and 44 copies and the other of...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1034/j.1399-0004.1998.5440416.x
更新日期：1998-10-01 00:00:00
abstract：:We report studies on two patients (a mother and her daughter) presenting with a Charcot-Marie-Tooth type 1 (CMT1) phenotype: low nerve conduction velocities of 13-15 m/s and an early onset at the age of walking. DNA analysis of the gene coding for the major peripheral myelin protein PO showed a new point mutation in e...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1995.tb04109.x
更新日期：1995-12-01 00:00:00
abstract：:The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct morphology and combination of AVCD features in some of these syndr...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1111/cge.13375
更新日期：2019-02-01 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
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1998.tb03693.x
更新日期：1998-07-01 00:00:00
abstract：:Emery-Dreifuss muscular dystrophy (EDMD) is a heterogeneous genetic disorder characterized by peripheral muscular weakness often associated with dilated cardiomyopathy. We characterize clinically a large family with a mutation in FHL1 gene (p.Cys255Ser). Penetrance was 44%, 100% for males and 18% for females. The hear...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/cge.12760
更新日期：2016-08-01 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
pub_type： 杂志文章
doi：10.1111/cge.12273
更新日期：2014-09-01 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
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1978.tb02108.x
更新日期：1978-08-01 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
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1993.tb03904.x
更新日期：1993-12-01 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
pub_type： 杂志文章,评审
doi：10.1111/j.1399-0004.1994.tb04035.x
更新日期：1994-06-01 00:00:00
abstract：:An African American male of West Indies descent was diagnosed to have elevated transferrin saturation, hyperferritinemia, severe iron deposition in hepatocytes, and hepatic cirrhosis at age 4. He was treated with serial phlebotomy to maintain a normal serum ferritin concentration thereafter. We evaluated him at age 23...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2008.01017.x
更新日期：2008-07-01 00:00:00
abstract：:Autosomal dominant EEC syndrome consists of ectrodactyly, ectodermal dysplasia, and cleft lip with or without cleft palate (CL/P). We investigated an EEC kindred with 10 affected persons in three generations in order to map the causative mutation in this family and to map modifier genes that contribute to the expressi...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2004.00287.x
更新日期：2004-09-01 00:00:00
abstract：:Mutations in the myelin protein zero (MPZ) gene are one of the frequent causes of Charcot-Marie-Tooth (CMT) hereditary neuropathies. Because the mutation rate of MPZ gene is rather high and some mutations are reported as polymorphisms, the proper clinical, electrophysiological examination and the segregation of the ne...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2010.01423.x
更新日期：2010-07-01 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
pub_type： 杂志文章
doi：10.1111/cge.12201
更新日期：2014-05-01 00:00:00
abstract：:For Incontinentia pigmenti Bloch-Sulzberger (IP) and Aicardi syndrome, an X-linked dominant transmission with lethality in hemizygous males has been proposed. The typical transition from inflammation to verrucous hypertrophy and hyperpigmented skin areas in IP suggests a gradual replacement of defective cells by norma...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1985.tb00392.x
更新日期：1985-09-01 00:00:00
abstract：:Between 1994 and 1998, the 23 UK genetics departments, which form the UK Huntington's Disease Consortium, have undertaken 161 direct mutation adult predictive tests on individuals whose at-risk parent was alive or had died without showing signs of Huntington's disease (HD) (5.7% of total UK tests). This study describe...
journal_title：Clinical genetics
pub_type： 杂志文章,多中心研究
doi：10.1034/j.1399-0004.2000.580107.x
更新日期：2000-07-01 00:00:00
