Abstract:
:A family is described in which the mother's four pregnancies resulted in one spontaneous abortion, one healthy boy, and a male and female sib with developmental delay and multiple minor dysmorphic features. Chromosome analysis showed a large pericentric inversion of chromosome 10, involving the region between bands p15.1 and q25.2, in the father and the healthy son: 46,XY,inv(10) (p15.1q25.2), and an unbalanced karyotype in the two affected sibs: rec(10),dup p,inv(10) (p15.1q25.2). The unbalanced chromosome has been produced by meiotic recombination between the inversion chromosome and its normal homologue. The two affected sibs have partial duplication of 10p and partial deficiency of 10q, and share a large number of clinical features, several of which have previously been described in both of these chromosome imbalances. We believe this to be the largest pericentric inversion of chromosome 10 reported to have produced recombinant offspring.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Roberts P,Williams J,Sills MAdoi
10.1136/jmg.26.7.461subject
Has Abstractpub_date
1989-07-01 00:00:00pages
461-4issue
7eissn
0022-2593issn
1468-6244journal_volume
26pub_type
杂志文章abstract:BACKGROUND:Disruption of granulocyte/macrophage colony-stimulating factor (GM-CSF) signalling causes pulmonary alveolar proteinosis (PAP). Rarely, genetic defects in neonatal or infant-onset PAP have been identified in CSF2RA. However, no report has clearly identified any function-associated genetic defect in CSF2RB. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2010.082586
更新日期:2011-03-01 00:00:00
abstract::Primary hyperoxaluria type 1 (PH1) is a severe autosomal recessive inborn error of glyoxylate metabolism caused by deficiency of the hepatic peroxisomal enzyme alanine:glyoxylate aminotransferase. This enzyme is encoded by the AGXT gene on chromosome 2q37.3. DNA samples from 79 PH1 patients were studied using single s...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.6.489
更新日期:1997-06-01 00:00:00
abstract:BACKGROUND:Lynch syndrome, an autosomal-dominant disorder characterised by high colorectal and endometrial cancer risks, is caused by inherited mutations in DNA mismatch repair (MMR) genes. Mutations fully abrogating gene function are unambiguously disease causing. However, missense mutations often have unknown functio...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2013-101987
更新日期:2014-04-01 00:00:00
abstract::To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.1.41
更新日期:1988-01-01 00:00:00
abstract::The clinical and haematological findings in 19 Liberians probably homozygous for beta thalassaemia are described. The haemoglobin patterns were similar with Hb F levels in the 30-50% range and a raised level of Hb A2 and, although the clinical severity varied widely, over half the cases were symptomless and even the m...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.12.2.165
更新日期:1975-06-01 00:00:00
abstract:BACKGROUND:The melanocortin-4-receptor gene (MC4R) is part of the melanocortinergic pathway that controls energy homeostasis. In a recent meta-analysis, the MC4R V103I (rs2229616) polymorphism was shown to be associated with body weight regulation. Although no functional differences between the isoleucine comprising re...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2004.027011
更新日期:2005-04-01 00:00:00
abstract:BACKGROUND:Deletions of the HOXC gene cluster result in variable phenotypes in mice, but have been rarely described in humans. OBJECTIVE:To report chromosome 12q13.13 microdeletions ranging from 13 to 175 kb and involving the 5' HOXC genes in four families, segregating congenital lower limb malformations, including cl...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2015-103505
更新日期:2016-04-01 00:00:00
abstract:BACKGROUND:Anticonvulsants taken in pregnancy are associated with an increased risk of malformations and developmental delay in the children. To evaluate the pattern of abnormalities associated with prenatal anticonvulsant exposure further, we undertook a clinical study of 57 children with fetal anticonvulsant syndrome...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.37.7.489
更新日期:2000-07-01 00:00:00
abstract::Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive multisystem disorder caused by thymidine phosphorylase (TP) deficiency, resulting in severe gastrointestinal dysmotility and skeletal muscle abnormalities. A patient is reported with a classical MNGIE clinical presentation but with...
journal_title:Journal of medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1136/jmg.2003.013789
更新日期:2004-02-01 00:00:00
abstract::A rapid PCR based assay was used to ascertain the presence of maternal cell contamination (MCC) in amniotic fluid cell cultures and to exclude MCC in cases where cytogenetic analysis was possible only from one primary cell culture. Six 6-carboxyfluorescein (FAM) and three 6-carboxyfluorescein hexachloride (HEX) labell...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.1.61
更新日期:1995-01-01 00:00:00
abstract::The chemical and physical properties of haemoglobin S derived from homozygotes for this haemoglobin in Sicily were examined, as well as some erythrocytic characteristics. Sicilian Hb S was identical to that found in USA black patients in electrophoretic mobility on both starch and citrate agar media, solubility, mecha...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.17.1.34
更新日期:1980-02-01 00:00:00
abstract::Using DNA samples obtained from two unrelated patients, diagnosed as having familial dysalbuminaemic hyperthyroxinaemia (FDH), exons 1-14 which span the entire coding region of the human serum albumin (HSA) gene were amplified by the polymerase chain reaction. The sequence of each of the 14 DNA fragments was then dete...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.5.355
更新日期:1994-05-01 00:00:00
abstract::Deficiency of iduronate-2-sulphatase (IDS) results in the X linked recessive lysosomal storage disorder Hunter syndrome. Determination of carrier status in families affected by this disorder has been performed using a variety of enzymatic tests. None of these tests has proved to be 100% effective at identifying carrie...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.8.646
更新日期:1998-08-01 00:00:00
abstract::The most useful markers for the prenatal diagnosis of myotonic dystrophy (DM) are APOC2 and CKM, both of which map proximal to DM. In order to produce other markers useful for DM, we have screened genomic DNA libraries constructed from cell line 20XP3542-1-4, which contains 20 to 30 Mb of human material including APOC...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.2.84
更新日期:1991-02-01 00:00:00
abstract::A mother with apparently balanced translocation between chromosomes 4 and 22 gave birth to two children (sib 1 and twin A) with 45,XX,der(4)t(4;22) (p16.3;q11.2)mat,-22 and 45,XY,der(4)t(4; 22(p16.3;q11.2)mat,-22 karyotypes. The mother was a slow learner and required special education. The imbalance in the sibs arose ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.10.852
更新日期:1996-10-01 00:00:00
abstract::A review of the data supports the suggestion of Knox (1974) that the sex ratio and incidence of anencephalics vary together within populations, as they are known to do between populations. There seems some doubts, though, whether Knox was correct in hypothesising that the sex ratio of anencephalics varies with their i...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.2.129
更新日期:1979-04-01 00:00:00
abstract:BACKGROUND:Over the last few years, array-comparative genomic hybridisation (CGH) has considerably improved our ability to detect cryptic unbalanced rearrangements in patients with syndromic mental retardation. METHOD:Molecular karyotyping of six patients with syndromic mental retardation was carried out using whole-g...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.069732
更新日期:2010-01-01 00:00:00
abstract::A 2-year-old boy with mental and growth retardation is presented; he has a 46,XY,r(10)(p15q26) chromosome complement. Five previously reported cases of ring chromosome 10 were reviewed and compared with the present case in an attempt to delineate a clinical syndrome. Since the first description, identified by Giemsa b...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.20.2.142
更新日期:1983-04-01 00:00:00
abstract:BACKGROUND:There is increasing interest in the influence of host genetic factors on hepatic fibrosis, and whether genetic markers can reliably identify subjects at risk of developing severe disease. We hypothesised that hepatitis C virus (HCV) infected subjects with progressive fibrosis, classified using strict criteri...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2005.032557
更新日期:2005-07-01 00:00:00
abstract::A family with juvenile proximal spinal muscular atrophy with dominant inheritance and complete penetrance is reported. The disease occurred in three generations and showed high variations in the age of onset and progression among the affected members. A characteristic feature was the constant involvement of facial nuc...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.13.2.131
更新日期:1976-04-01 00:00:00
abstract::Familial adenomatous polyposis (FAP) is characterised by hundreds of colorectal adenomas. Endocrine neoplasms have occasionally been reported, as have gastric polyps, which are usually hamartomatous in the fundus of the stomach and adenomatous in the antrum. A 57 year old man with colorectal, gastric, and periampullar...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::Various heteromorphisms of the 9q heterochromatic area have been reported. In most instances, the extra G positive band is accompanied by an extra C band. We describe a family where the extra G band is totally euchromatic and does not include an extra C band. It is not clear whether these two types of variant chromoso...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.7.613
更新日期:1993-07-01 00:00:00
abstract:BACKGROUND:Leber congenital amaurosis (LCA) is the earliest and most severe inherited retinal degeneration. Isolated forms of LCA frequently result from mutation of the CEP290 gene which is expressed in various ciliated tissues. METHODS:Seven LCA patients with CEP290 mutations were investigated to study otorhinolaryng...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2010.077883
更新日期:2010-12-01 00:00:00
abstract::A child was brought to us with multiple anomalies. On examination we found an interstitial deletion in the long arms of chromosome 1. We studied genetic and chromosome markers, comparing our clinical and cytogenetic findings with other reported cases of chromosome 1 interstitial deletion. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.17.6.483
更新日期:1980-12-01 00:00:00
abstract::Recent studies have shown that the G-allele of MDM2 SNP309 (T/G) in the p53 tumour suppressor pathway can accelerate tumorigenesis and alter the risk of various cancers in women and not in men. In this report, data are presented from two independent groups of patients that suggest that the G-allele of SNP309 accelerat...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2006.043539
更新日期:2006-12-01 00:00:00
abstract::Split hand-split foot malformation (SHFM) is a genetically heterogeneous limb developmental defect characterised by the absence of digital rays and syndactyly of the remaining digits. Three disease loci have recently been mapped to chromosomes 7q21 (SHFM1), Xq26 (SHFM2), and 10q25 respectively (SHFM3). We report the m...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.12.996
更新日期:1996-12-01 00:00:00
abstract::Primary ciliary dyskinesia is an autosomal recessive condition characterised by chronic sinusitis, bronchiectasis, and subfertility. Situs inversus occurs in 50% of cases (Kartagener syndrome). It has an estimated incidence of 1 in 20 000 live births. The clinical phenotype is caused by defective ciliary function asso...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.37.4.241
更新日期:2000-04-01 00:00:00
abstract::Evidence is presented to support the recent suggestion that human neural tube closure is similar to that observed in mice, and comprises several regionally distinct closure sites rather than being a simple zipping up process. Seven subjects, each with more than one neural tube defect (NTD), are described. Comparative ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.3.205
更新日期:1995-03-01 00:00:00
abstract::Two cases of growth failure, microcephaly, facial dysmorphism, muscular hypertonia, and severe psychomotor retardation are described. At birth, both cases had cytogenetic mosaicism in lymphocytes and skin fibroblasts, in case 1 ring chromosome 21 and monosomy 21 and in case 2, deletion of chromosome 21 and monosomy 21...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.7.534
更新日期:1994-07-01 00:00:00
abstract:BACKGROUND:Multiple genes have been provisionally associated with Alzheimer's disease, including the coding polymorphisms in exons 8 and 13 in the low density lipoprotein receptor gene (LDLR), situated on chromosome 19p13.2. METHODS:The sample groups consisted of 180 AD patients and 141 control spouses. We carried out...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2004.024968
更新日期:2005-02-01 00:00:00