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 15 and 47. Clinical examination showed no definite signs of DM in these two men. Haplotype analysis of DNA markers close to the DM protein kinase (DMPK) gene suggested a common ancestral DM mutation. A continuous gradient of repeat sizes from normal to abnormal range can explain this phenomenon.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Yamagata H,Kinoshita M,Komori T,Kondo I,Miki Tdoi
10.1034/j.1399-0004.1998.5440416.xsubject
Has Abstractpub_date
1998-10-01 00:00:00pages
354-7issue
4eissn
0009-9163issn
1399-0004journal_volume
54pub_type
杂志文章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
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1991.tb03054.x
更新日期:1991-06-01 00:00:00
abstract::We describe a 2-year-old female patient who had megaloblastic anaemia caused by selective vitamin B12 malabsorption (Imerslund-Grasbeck syndrome) and del(21)(q22). To our knowledge, this is the first observation of Imerslund-Grasbeck syndrome associated with del(21)(q22) in the literature. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb02637.x
更新日期:1996-10-01 00:00:00
abstract::Mediastinal vascular rings cause tracheoesophageal obstruction, resulting in respiratory symptoms and dysphagia in children. Although a large number of children with Rubinstein-Taybi syndrome have frequent respiratory infections and feeding difficulties, there has been no firmly established association between this sy...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1995.tb04119.x
更新日期:1995-12-01 00:00:00
abstract::PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Thauvin-Robinet et al. (2013) The American Journal of Human Genetics 93: 141-149 SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signalling. Chudasama et al. (2013) The American Journal of Human Genetics 93: 1...
journal_title:Clinical genetics
pub_type: 评论,杂志文章
doi:10.1111/cge.12262
更新日期:2014-03-01 00:00:00
abstract::The deletions of 4.4 and 3.2 kb identified in exons 24 and 20, respectively, are two of the four most common mutations in the BRCA1 gene in Greek breast cancer patients. They have been reported previously six and three times, respectively, in unrelated Greek families. A total of 11 more families have been identified i...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2010.01532.x
更新日期:2011-10-01 00:00:00
abstract::The contribution of fetal and maternal genes to the variation in birth weight was estimated in a sample of 5,625 grandchildren of monozygotic and dizygotic twins. Fetal and maternal genetic effects were separated by comparing the covariance structure for offspring of daughters of twins with that for offspring of sons ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb01061.x
更新日期:1984-10-01 00:00:00
abstract::Isolated cleft palate (CP) is considered to be a heterogeneous trait with an important genetic contribution to the etiology. Multifactorial-threshold models of non-syndromic CP inheritance assume a female predominance. The present study of 52 Danish birth cohorts, using several ascertainment sources, identified 2301 C...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1994.tb04173.x
更新日期:1994-11-01 00:00:00
abstract::Hereditary motor and sensory neuropathy type Russe (HMSNR), also called CMT4G, is an autosomal recessive inherited peripheral neuropathy (IPN) caused by a founder mutation in the HK1 gene. HMSNR affects only patients with Roma origin, similar to the better known HMSN type Lom clarified earlier. By testing IPN patients...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12745
更新日期:2016-08-01 00:00:00
abstract::A 14-year-old boy is reported with bilateral hypoplastic patellae and multiple congenital skeletal anomalies. Since this constellation of bony malformations has not been described previously, we believe this represents a new syndrome most probably of genetic etiology. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb02785.x
更新日期:1987-03-01 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
pub_type: 杂志文章
doi:
更新日期:1997-04-01 00:00:00
abstract::Approximately one in 2000 children is born with a genetic hearing impairment, mostly inherited as a non-syndromic, autosomal recessive trait, for which more than 30 different genes have been identified. Previous studies have shown that one of these genes, connexin 26 (GJB2), accounts for 30-60% of such deafness, but t...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2005.00539.x
更新日期:2005-12-01 00:00:00
abstract::Neurodevelopmental and psychological aspects in a child with 49XYYYY karotype are described. The developmental examination revealed mild mental retardation (I.Q.=50), disturbances in gross and fine motor development and speech disorders. The child was treated by developmental therapy which improved his abilities for a...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb01913.x
更新日期:1986-12-01 00:00:00
abstract::While there is widespread agreement on the broad aspects of what constitutes a biobank, there is much disagreement regarding the precise definition. This research aimed to describe and analyze the definitions of the term biobank offered by various stakeholders in biobanking. Interviews were conducted with 36 biobankin...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12268
更新日期:2014-03-01 00:00:00
abstract::Low density lipoprotein (LDL) receptor activity, measured as 125I-LDL association and degradation at 37 degrees C, was determined in cultured fibroblasts from involved as well as uninvolved skin obtained from 20 psoriasis patients. The same analyses were conducted in fibroblasts from two reference groups consisting of...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb01983.x
更新日期:1984-03-01 00:00:00
abstract::Anthropometric and craniofacial profile patterns indicating the percent difference from the overall mean were developed on 34 physical parameters with 31 white, mentally retarded males (23 adults and 8 children) with the fra(X) syndrome matched for age with 31 white, mentally retarded males without a known cause of th...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1993.tb03863.x
更新日期:1993-09-01 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
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2009.01287.x
更新日期:2010-02-01 00:00:00
abstract::Ectodermal dysplasias are a group of genetic disorders defined by ectodermal derivative impairment (EDI). To test the impact of the Wnt/beta-catenin pathway in the genetic screening of EDI, we performed a molecular gene study of WNT10A in 60 subjects from a population of 133 young Italian patients referred for the imp...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13147
更新日期:2018-03-01 00:00:00
abstract::Two unrelated children with partial deletion of the long arm of a chromosome no. 5 are reported. The boy presented with severe hypotonia, developmental delay, and a few minor defects of the face including frontal bossing, antimongoloid slant of the palpebral fissures, depressed nasal bridge and bilateral epicanthal fo...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb00692.x
更新日期:1981-03-01 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 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::Usher syndrome has been historically categorized into one of three classical types based on the patient phenotype. However, the vestibular phenotype does not infallibly predict which Usher genes are mutated. Conversely, the Usher syndrome genotype is not sufficient to reliably predict vestibular function. Here we pres...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13868
更新日期:2021-02-01 00:00:00
abstract::Karyotype and DNA analyses using DNA probes were carried out in a family with the Cohen syndrome. Two affected brothers had normal chromosomal constitutions. A major deletion or duplication of genomic DNA fragments hybridized with the DNA probes, pML34 at D15S9 locus and pTD3-21 at D15S10 locus, assigned on 15q11-q12 ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1990.tb03607.x
更新日期:1990-12-01 00:00:00
abstract::436 index patients with major congenital urinary tract malformations, 385 with upper and 51 with lower urinary tract anomalies, were studied. A significant male sex predominance was noted in each group. No apparent correlation was found between parental age, birth order, birth weight and incidence of these malformatio...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1975.tb01952.x
更新日期:1975-07-01 00:00:00
abstract::This article provides an overview of the current knowledge on medical complications, health characteristics, and psychosocial issues in adults with achondroplasia. We have used a scoping review methodology particularly recommended for mapping and summarizing existing research evidence, and to identify knowledge gaps. ...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.13542
更新日期:2020-01-01 00:00:00
abstract::Neurofibromatosis-Noonan syndrome (NFNS) has been described as a unique phenotype, combining manifestations of neurofibromatosis type 1 (NF1) and Noonan syndrome, which are separate syndromes. Potential etiologies of NFNS include a discrete syndrome of distinct etiology, co-segregation of two mutated common genes, var...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2006.00576.x
更新日期:2006-03-01 00:00:00
abstract::Arrhythmogenic cardiomyopathy (ACM) is a familial cardiomyopathy featured by fibrofatty replacement of cardiomyocytes. Responsible genetic factors are not discernible in approximately one-third of ACM probands. To investigate this further, we performed whole genome sequencing in 14 mutation-negative ACM probands who u...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13642
更新日期:2019-12-01 00:00:00
abstract::The disorders caused by mutations in genes encoding subunits and accessory proteins of cohesin complex are collectively termed as cohesinopathies. The best known cohesinopathy is Cornelia de Lange Syndrome (CdLS), which is a multisystem developmental disorder characterized by facial dysmorphism, limb malformations, gr...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12194
更新日期:2014-05-01 00:00:00
abstract::Halperin et al. (Halperin JM. Newcorn JH, Koda VH, Pick L, McKay KE, Knott P. Noradrenergic mechanisms in ADHD children with and without reading disabilities: a replication and extension. J Am Acad Child Adolesc Psychiatry 1997: 36: 1688 1696) reported a significant increase in plasma norepinephrine (NE) in attention-...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.1999.550304.x
更新日期:1999-03-01 00:00:00
abstract::In a sample of 79 pregnant women at risk offspring with neural tube defects (NTDs) and 158 controls, significantly increased median values were found for apo-transcobalamins I and II in amniotic fluid in the group at risk, thus confirming previous results. The findings may reflect a genetic disposition to NTDs associa...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1991.tb03032.x
更新日期:1991-04-01 00:00:00
abstract::A 4-year-old Saudi female child with extreme failure to thrive, striking dysmorphic features, developmental delay, congenital hypoparathyroidism, UTI, seizures, chronic otitis media, chronic non-specific gastroenteritis and repeated life-threatening infections was followed from birth. She was the product of first-cous...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03220.x
更新日期:1992-09-01 00:00:00