Abstract:
:The association of maternal uniparental disomy for chromosome 7 and postnatal growth failure has been reported in four cases and suggests the presence of genomic imprinting of one or more growth related genes on chromosome 7. However, in the reported cases, the possibility of homozygosity for a recessive mutation could not be excluded as the cause of the growth failure as in all cases isodisomy rather than heterodisomy for chromosome 7 was present. We report a case of prenatal and postnatal growth retardation associated with a prenatal diagnosis of mosaicism for trisomy 7 confined to the placenta. DNA typing of polymorphic markers on chromosome 7 has established that the zygote originated as a trisomy 7 with two maternal and one paternal chromosomes 7 with subsequent loss of the paternal chromosome resulting in a disomic child with maternal heterodisomy for chromosome 7. The growth failure seen in this child with heterodisomy 7 lends strong support to the hypothesis of imprinted gene(s) on chromosome 7.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Langlois S,Yong SL,Wilson RD,Kwong LC,Kalousek DKdoi
10.1136/jmg.32.11.871subject
Has Abstractpub_date
1995-11-01 00:00:00pages
871-5issue
11eissn
0022-2593issn
1468-6244journal_volume
32pub_type
杂志文章,评审abstract::We report a family with type 2 neurofibromatosis and late onset tumours. Five members of this family have developed hearing loss late in life, two of whom have only been shown to have the diagnosis in their seventies, and three other obligate gene carriers died undiagnosed at 64, 72, and 78 years of age. A missense mu...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.6.470
更新日期:1995-06-01 00:00:00
abstract:BACKGROUND:The genetic causes of the majority of male and female infertility caused by human non-obstructive azoospermia (NOA) and premature ovarian insufficiency (POI) with meiotic arrest are unknown. OBJECTIVE:To identify the genetic cause of NOA and POI in two affected members from a consanguineous Chinese family. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2017-104992
更新日期:2018-03-01 00:00:00
abstract::This is a study of 138 index patients with retinitis pigmentosa (RP) and their families, in which the selection of index patients was solely on the basis of their residence in Birmingham. Clinical analysis showed that severe disease was as likely to indicate dominant or non-genetic RP as to indicate recessive disease,...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.21.6.421
更新日期:1984-12-01 00:00:00
abstract::Adolescents who are actively requesting Huntington's predictive testing of their own accord pose a dilemma to those providing testing. In the absence of empirical evidence as regards the impact of genetic testing on minors, current policy and guidelines, based on the ethical principles of non-maleficence and respect f...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.33.11.912
更新日期:1996-11-01 00:00:00
abstract::Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 are responsible for a subset of the muscular dystrophies. In this study we aim to characterise the nature and frequency of abnormalities of these proteins in an Australian population and to formulate an investigative algorithm to aid in approaching the ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.35.5.379
更新日期:1998-05-01 00:00:00
abstract::Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome 1q32-q41. DNA from a family with four of seven sibs affected with clinical characteristics of Usher syndrome type ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.10.843
更新日期:1993-10-01 00:00:00
abstract:BACKGROUND:Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Most deleterious variants are loss of function mutations in one of the three CCM genes. These genes code for proteins that form a ternary cytosolic complex with CCM2 as a hub. Very few CCM2 mi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106401
更新日期:2020-06-01 00:00:00
abstract::A family is described in which 16 individuals in 3 generations have Charcot-Marie-Tooth disease. At least 6 family members also have the naevoid basal cell carcinoma syndrome. In addition, 1 subject with both disorders has 2 young daughters with the naevoid basal cell carcinoma syndrome. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.15.4.288
更新日期:1978-08-01 00:00:00
abstract::A Familial Ovarian Cancer Register has been established which has recruited primarily through media publicity. In depth semi-structured interviews were carried out with 20 women who had volunteered in order to explore (1) knowledge about the disease, (2) motivations for contacting the Register, and (3) expectations. W...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.7.575
更新日期:1993-07-01 00:00:00
abstract::This paper describes the coexistence of genetically determined reduced cholinesterase activity and congenital distichiasis in the same family. The pedigree suggests that these two autosomal dominant diseases are segregated independently and do not show evidence of linkage. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.13.6.514
更新日期:1976-12-01 00:00:00
abstract:BACKGROUND:Intellectual disability (ID) is a highly heterogeneous condition affecting 2% of the population worldwide. In a field study conducted in a highly inbred area of Northeastern Brazil, we investigated a consanguineous family in which seven adults presented syndromic ID. METHODS:Genome-Wide Human SNP Array 6.0 ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2014-102793
更新日期:2015-02-01 00:00:00
abstract:BACKGROUND:Congenital hereditary non-progressive hypoplasia of the cerebellum is a rare condition, frequently associated with other neuropathology such as lissencephaly. Clinically, the condition is associated with variable degrees of mental retardation, microcephaly, seizures, and movement disorders due to ataxia. In ...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2005.040030
更新日期:2006-05-01 00:00:00
abstract:BACKGROUND:Chromosomal rearrangements, arising from unequal recombination between repeated sequences, are found in a subset of patients with autism. Duplications involving loci associated with behavioural disturbances constitute an especially good candidate mechanism. The Williams-Beuren critical region (WBCR), located...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2006.047092
更新日期:2007-07-01 00:00:00
abstract::Three patients with accessory small ring chromosomes derived from chromosome 1 are presented together with additional clinical details and cytogenetic analyses of a previously reported patient. Cytogenetic analysis was undertaken by FISH using a reverse painting probe generated from one of the patients by microdissect...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-11-01 00:00:00
abstract:BACKGROUND:The use of array comparative genome hybridisation (CGH) analyses for investigation of children with mental retardation has led to the identification of a growing number of new microdeletion and microduplication syndromes, some of which have become clinically well characterised and some that await further del...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2008.065094
更新日期:2009-10-01 00:00:00
abstract::Two neonates with limb-body wall complex (LBWC) and complete absence of the external genitalia are presented. Our patients are the sixth and seventh cases of complete absence of the external genitalia recorded in English publications and the first two cases associated with LBWC. The incidence of complete absence of th...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.25.5.340
更新日期:1988-05-01 00:00:00
abstract:BACKGROUND:DYNC1H1 encodes the heavy chain protein of the cytoplasmic dynein 1 motor protein complex that plays a key role in retrograde axonal transport in neurons. Furthermore, it interacts with the LIS1 gene of which haploinsufficiency causes a severe neuronal migration disorder in humans, known as classical lissenc...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2011-100542
更新日期:2012-03-01 00:00:00
abstract::Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. BBS expression varies both within and between families and diagnosis is often difficult. We sought to define the conditio...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-06-01 00:00:00
abstract::We have evaluated a patient with Jacobsen syndrome. The patient presented with growth retardation, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus, central nervous system (CNS) abnormalities, and an endocardial...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.33.9.772
更新日期:1996-09-01 00:00:00
abstract::DNA fingerprinting was performed to verify the pedigree structure of a family under investigation for an unusual case of beta thalassaemia. A higher than expected proportion of hypervariable bands was shared by the proband and his mother, leading to suspicion that the child had been the product of a consanguineous mat...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.10.660
更新日期:1988-10-01 00:00:00
abstract::A large body of data on segregating families is used to generate specific recurrence risks conditional on sex and birth order for the best-fitting model of polygenes plus maternal effect. The method is general for diseases of complex inheritance, and lies within the competence of any serious genetic clinic. The questi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.14.6.408
更新日期:1977-12-01 00:00:00
abstract::A 13 year old girl was referred with congenital microcephaly, developmental delay, a prominent nose, highly arched palate, and an apparently low set left ear. She was found to have a pericentric inversion of one chromosome 7 and a ring chromosome 8, 46,XX,inv(7) (pter----p22::q11.23----p22::q11.23----qter), r(8) (p23q...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.1.66
更新日期:1992-01-01 00:00:00
abstract:BACKGROUND:Autistic spectrum disorders (ASDs) with developmental delay and seizures are a genetically heterogeneous group of diseases caused by at least 700 different genes. Still, a number of cases remain genetically undiagnosed. OBJECTIVE:The objective of this study was to identify and characterise pathogenic varian...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2018-105927
更新日期:2020-02-01 00:00:00
abstract:BACKGROUND:Limb-girdle muscular dystrophy type R1 (LGMDR1) can be caused by recessive CAPN3 mutations accounting for the majority of LGMD. To date, no systemic evaluation has been performed to analyse the detrimental and normal mutations on CAPN3 and its hotspots. METHODS:CAPN3 variants (n=112) from a total of 124 pat...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2020-107159
更新日期:2020-09-29 00:00:00
abstract:OBJECTIVES:To evaluate the feasibility of a reduced counselling programme for predictive genetic testing for hereditary non-polyposis colorectal cancer (HNPCC) in terms of counsellees' opinions on the extent and significance of genetic counselling and need for psychological support at different phases of the testing pr...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.37.2.108
更新日期:2000-02-01 00:00:00
abstract::A case of true hermaphroditism is reported in which a 46,XY karyotype was associated with a testis and an ovotestis. The dual presence of a Fallopian tube and a vas deferens on the side of the ovotestis is documented as a previously unreported finding. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.3.206
更新日期:1988-03-01 00:00:00
abstract::True isochromosomes for Xp probably do not exist in a liveborn. We describe a rare case of complete Xp duplication and retention of the inactivation centre at Xq13. Cytogenetically, it is described as a nonmosaic 46,X,psu idic(X)(q13). Complete duplication of Xpter-->Xq13 was confirmed by banded analysis and FISH prob...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.3.237
更新日期:1996-03-01 00:00:00
abstract:BACKGROUND:Truncus arteriosus (TA) is characterised by failure of septation of the outflow tract into aortic and pulmonary trunks and is associated with high morbidity and mortality. Although ranked among the least common congenital heart defects, TA provides an excellent model for the role of individual genes in cardi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2015-102992
更新日期:2015-05-01 00:00:00
abstract::We report on a sex reversed Japanese child with a 46,X,Yp+ karyotype, minor dysmorphic features, and no testicular development. The Yp+ chromosome was derived by translocation of an Xp fragment (Xp21-Xp22.3) to Yp11.3. This has resulted in deletion of distal part of the Y chromosome pseudoautosomal region (DXYS15-telo...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.4.226
更新日期:1992-04-01 00:00:00
abstract:OBJECTIVE:To identify genetic causes of COACH syndrome BACKGROUND:COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis. The vermis hypoplasia falls in a spectrum of mid-hindbrai...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2009.067249
更新日期:2010-01-01 00:00:00