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 to lyse contaminating red blood cells has been recommended to increase culture success. In this report we document that cultures derived from blood-contaminated amniotic fluids form fewer cell colonies than cultures from clear amniotic fluids. We also show that a recommended procedure using ammonium chloride to lyse red blood cells is ineffectual in improving the efficiency of cell culture, and may be detrimental to successful culturing of cells from bloody amniotic fluids. A hypothesis concerning the mechanism of interference with culture of amniotic fluid cells by contaminating blood is presented and a means of preventing this complication is suggested.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Felix JS,Doherty RAsubject
Has Abstractpub_date
1979-03-01 00:00:00pages
215-20issue
3eissn
0009-9163issn
1399-0004journal_volume
15pub_type
杂志文章abstract::Monoamine oxidase activity was assayed in platelets from 32 apparently healthy subjects using phenethylamine as substrate and two concentrations of oxygen (0.06 and 0.12 mM). Apparent Km (microM) and Vmax (nmol/mg protein/5 min) values were estimated from double reciprocal plots. The means of the Km and Vmax values we...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb00734.x
更新日期:1981-05-01 00:00:00
abstract::The ability of statins to strongly reduce low-density lipoprotein cholesterol (LDL-C) varies interindividually and is partially influenced by genetic variants. Based on a comprehensive analysis of 23 single nucleotide polymorphisms (SNPs) known to be associated with pharmacokinetics and dynamics of statins, we develop...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12890
更新日期:2017-03-01 00:00:00
abstract::A slowly progressive type of muscular dystrophy affecting 11 known members of several Southern Manitoba Hutterite colonies is described. Though encompassing the facial characteristics of the facio-scapulo-humeral type and the proximal distribution of the limb-girdle type, it was felt that this disease represents a dis...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1976.tb01568.x
更新日期:1976-02-01 00:00:00
abstract::The von Hippel Lindau (VHL) syndrome is an inherited multi-tumour disorder characterised by clinical heterogeneity and high penetrance. The VHL gene has been shown to be a tumour-suppressor gene. A carrier of a germline mutation will be predisposed to a high variety of benign and malign tumours affecting different org...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.1999.560305.x
更新日期:1999-09-01 00:00:00
abstract::Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of part of the long arm of chromosome 7 (46,XX or XY, del(7)(q32); 46,XX or XY,del(7)(pter leads to q32:)). Comparison of the findings of these four cases with one...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:
更新日期:1977-10-01 00:00:00
abstract::Non-syndromic deafness is a paradigm of genetic heterogeneity. More than 70 loci have been mapped, and 25 of the nuclear genes responsible for non-syndromic deafness have been identified. Autosomal-dominant genes are responsible for about 20% of the cases of hereditary non-syndromic deafness, with 16 different genes i...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1034/j.1399-0004.2002.620101.x
更新日期:2002-07-01 00:00:00
abstract::Next-generation sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing and increasing the throughput. Now, the focus is on using NGS technology for diagnostics and therapeutics. In this review, we discuss the possible clinical applications of NGS and the potential of some of the current...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.2012.01865.x
更新日期:2012-06-01 00:00:00
abstract::Population-based genetic screening has been a mainstay of public health in the United States for many years. The goal of genetic screening is to identify individuals at increased risk for treatable diseases. The evolution of genetic testing to include multi-disease panels allows for new screening applications which ch...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12566
更新日期:2015-12-01 00:00:00
abstract::Ganglioside GM2 and its asialo-derivative, GA2 were radiolabeled in their N-acetyl-D-galactosaminyl moieties by oxidation with galactose oxidase and reduction with tritiated sodium borohydride. Specific activities of 6 X 10(4) dpm/nmol (GM2) and 1.8 X 10(6) dpm/nmol (GA2) were achieved. About 98% of the label was in N...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1977.tb01296.x
更新日期:1977-03-01 00:00:00
abstract::Hereditary hair loss in human is a group of clinically and genetically heterogeneous disorders. It is characterized by sparse to complete absence of hair on the scalp and other parts of the body. In few cases tightly curled twisted wooly hair (WH) on the scalp has been reported as well. The hair loss disorders, includ...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.12531
更新日期:2015-09-01 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::Cystic fibrosis (CF) is considered as a rare disease in black Africans. In fact, this disease is likely to be underestimated since clinical features consistent with CF diagnosis are often ascribed to environmental factors such as malnutrition. Very little is known about CFTR mutations in affected patients from Central...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2004.00230.x
更新日期:2004-04-01 00:00:00
abstract::Lysine methyltransferase 2D (KMT2D; OMIM 602113) encodes a histone methyltransferase involved in transcriptional regulation of the beta-globin and estrogen receptor as part of a large protein complex known as activating signal cointegrator-2-containing complex (ASCOM). Heterozygous germline mutations in the KMT2D gene...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13598
更新日期:2019-09-01 00:00:00
abstract::Growth retardation is a relatively consistent feature of Noonan syndrome but a standardized growth curve for height has never been calculated. Analysis of retrospective growth data on 112 patients with Noonan syndrome has permitted the establishment of preliminary reference growth standards for height for males and fe...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb00587.x
更新日期:1986-09-01 00:00:00
abstract::We report on a patient with Marfan's syndrome, with coexistent obstructive sleep hypopnea (OSH) and restrictive lung disease, complicated by respiratory insufficiency, who was successfully treated with nasal intermittent positive airway pressure (NIPPV) and oxygen. NIPPV therapy turned out to be effective on arterial ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1046/j.0009-9163.2002.00002.x
更新日期:2003-02-01 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
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb04335.x
更新日期:1996-02-01 00:00:00
abstract::A sibship consisting of three siblings, one male and two females with unrelated parents, showed a clinical syndrome including: infantile spasms with hypsarrhythmia, microcephaly, severe mental retardation and spastic quadriplegia. The pneumoencephalogram performed in two sibs showed agenesis of the corpus callosum and...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1977.tb00943.x
更新日期:1977-11-01 00:00:00
abstract::This paper reports on the presentations from the second session of a 2-day workshop on genetic diversity and science communication, organized by the Institute of Genetics. The four talks in this session (by Sarah Cunningham-Burley, Gail Geller, Michael Hayden, and Theresa Marteau) focused on the topic of risk assessme...
journal_title:Clinical genetics
pub_type:
doi:10.1111/j.1399-0004.2006.00681.x
更新日期:2006-11-01 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
pub_type: 杂志文章,多中心研究
doi:10.1111/cge.13055
更新日期:2018-01-01 00:00:00
abstract::Type 1a glycogen storage disease (GSD) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). Polymerase chain reaction (PCR) and nucleotide sequence analysis were used to identify the location and nature of mutations at the G6Pase locus in two siblings affected with typ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb02627.x
更新日期:1996-10-01 00:00:00
abstract::A premature male infant is described in whom the presence of coarse facies, diaphragmatic hernia, genital anomalies and Dandy-Walker malformation suggested a diagnosis of Fryns' syndrome. Lymphocyte karyotype revealed a partial trisomy 22, and his mother carried an apparently balanced 11/22 translocation. Three infant...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1991.tb03108.x
更新日期:1991-11-01 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
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb00479.x
更新日期:1984-02-01 00:00:00
abstract::Failure to thrive (FTT) causes significant morbidity, often without clear etiologies. Six individuals of a large consanguineous family presented in the neonatal period with recurrent vomiting and diarrhea, leading to severe FTT. Standard diagnostic work up did not ascertain an etiology. Autozygosity mapping and whole ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13883
更新日期:2020-11-15 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
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2006.00698.x
更新日期:2006-11-01 00:00:00
abstract::We describe 2 patients with Angelman syndrome (AS) due to paternal uniparental disomy (UPD). One patient is a female aged 30 years and the other a male aged 4 1/2 years. Both have the characteristic wide mouth and big chin, moderate mental retardation, virtually no speech but some 30 words of sign language and a happy...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1998.tb02682.x
更新日期:1998-03-01 00:00:00
abstract::Primary congenital glaucoma (PCG) has been associated with CYP1B1 gene (2p21), with a predominantly autosomal recessive mode of inheritance. Our earlier studies attributed CYP1B1 mutations to only 40% of Indian PCG cases. In this study, we included 72 such PCG cases where CYP1B1 mutations were detected in only 12 pati...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2005.00411.x
更新日期:2005-04-01 00:00:00
abstract::Kyphomelic dysplasia is a rare form of generalized skeletal dysplasia with about 15 cases described so far in the literature. We present the clinical, radiological, and pathological findings of an antenatally detected female fetus affected with this disorder. The differential diagnoses of prenatal and perinatal semile...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1034/j.1399-0004.2000.580510.x
更新日期:2000-11-01 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
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1983.tb02221.x
更新日期:1983-08-01 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
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2003.00057.x
更新日期:2003-05-01 00:00:00
abstract::Two of three unrelated children with de novo congenital complex chromosome rearrangements (CCR) with more than four chromosome breaks had cleft lip and palate as one of several congenital anomalies. In patient 1, unilateral complete cleft of the primary and secondary palates accompanied severe ectrodactyly, bilateral ...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1992.tb03225.x
更新日期:1992-09-01 00:00:00