Abstract:
:Hereditary spastic paraplegia (HSP) is rarely inherited in an X-linked recessive mode in pure and complicated forms. Recently, molecular linkage studies have suggested that these variant X-linked HSP conditions result from locus heterogeneity. In this paper we report on the clinical and linkage analysis of a kindred with complicated X-linked HSP. The finding in this family of a map location of the putative HSP gene in the same region as the documented for the pure HSP gene provides evidence that allelic mutations might also be responsible for the variable phenotype encountered in these X-linked disorders.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Goldblatt J,Ballo R,Sachs B,Moosa Adoi
10.1111/j.1399-0004.1989.tb02915.xsubject
Has Abstractpub_date
1989-02-01 00:00:00pages
116-20issue
2eissn
0009-9163issn
1399-0004journal_volume
35pub_type
杂志文章abstract::Poland anomaly and facio-auriculo-vertebral dysplasia are considered to be separate entities. We describe a 3-year-old boy with features of both Poland anomaly and facio-auriculo-vertebral dysplasia. This is the first report, to our knowledge, of this combination of birth defects. Possible pathogenetic implications ar...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03643.x
更新日期:1992-02-01 00:00:00
abstract::A follow-up study of 212 families for whom genetic counseling had been provided was performed to assess the effectiveness of the non-directive genetic counseling service at the Mount Sinai Medical Center in New York City. The preliminary result have been reported previously (Godmilow & Hirschhorn 1977). Of those famil...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1980.tb00106.x
更新日期:1980-01-01 00:00:00
abstract::Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) caused by the deficiency of the enzyme α-galactosidase. It exhibits a wide clinical spectrum that may lead to a delayed or even missed diagnosis and the real incidence can be underestimated. We report the cases of two unrelated Italian families in whom...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12071
更新日期:2013-09-01 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 cytogenetic survey of an unselected group of mentally retarded persons in a geographically limited area was made in order to establish the frequency of chromosome abnormalities within this group. In the area there were 2,157 patients, both institutionalized and living at home. A chromosome analysis was performed in ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1982.tb01441.x
更新日期:1982-11-01 00:00:00
abstract::Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). We present five patients with mutations in MAGEL2, including the first patient reported with a missense variant, adding to the limited literature. Further, we performed a sys...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13620
更新日期:2019-12-01 00:00:00
abstract::Clinical evaluation of a 13 1/2-year-old male revealed a 4.4-cm leg length discrepancy and a small penis with a normal endocrine evaluation. Cytogenetic analysis of peripheral blood lymphocytes and skin fibroblasts derived from the back showed 45,X/46,XY mosaicism with similar percentages of 45,X cells, 36% and 30% re...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1991.tb03084.x
更新日期:1991-09-01 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::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::We report on two families in which one or two children had a severe disorder of skeletal development detected by prenatal ultrasonography. The children died postnatally and showed typical radiological and biochemical findings of perinatal hypophosphatasia. Biochemical analysis revealed a low activity of alkaline phosp...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.1999.560409.x
更新日期:1999-10-01 00:00:00
abstract::Plasma lipid and serum apoprotein concentrations were determined in twenty-nine individuals with Gaucher type I disease. Plasma total cholesterol, low density lipoprotein (LDL) cholesterol and high density lipoprotein (HDL) cholesterol were all significantly reduced in the patients with Gaucher disease compared to a g...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb00799.x
更新日期:1984-08-01 00:00:00
abstract::Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal alpha-galactosidase A [EC 3.2.1.22]. The molecular diagnosis of Fabry disease is important for genotype/phenotype correlation, pre-natal or early diagnosis, and detection of carrier status. Although more than 200 genotypes of the alpha-galac...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2003.00050.x
更新日期:2003-03-01 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::We investigated whether an association exists between genetic variants of the human obesity (OB or leptin) gene and body mass index (BMI) or weight in subjects with Prader Willi syndrome (PWS) and in age- and gender-matched lean and obese subjects without PWS. The study included 51 subjects with PWS (mean age = 17.7 +...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1998.tb03751.x
更新日期:1998-11-01 00:00:00
abstract::Two 1p36 contiguous gene deletion syndromes are known so far: the terminal 1p36 deletion syndrome and a 1p36 deletion syndrome with a critical region located more proximal at 1p36.23-1p36.22. We present even more proximally located overlapping deletions from seven individuals, with the smallest region of overlap compr...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13739
更新日期:2020-06-01 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::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::A 28-year-old Turner female with secondary amenorrhea is described, who showed 45,X/46,X,del(Xp) mosaicism in her blood lymphocytes and a 46,X,del(Xp) karyotype only in her ovaries. 45,X/46,XX mosaicism was found in the patient's mother, who presented short stature, mild Turner dysmorphism and had a normal reproductiv...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03666.x
更新日期:1992-04-01 00:00:00
abstract::A female with clinical features of familial articular hypermobility syndrome (FAHS) and her family were studied. The subject showed generalized hypermobility, except for a painful shoulder which presented functional limitation with a diagnosis of painful shoulder syndrome. Biochemical studies demonstrated that collage...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1998.tb02656.x
更新日期:1998-02-01 00:00:00
abstract::An autosomal dominant (AD) antecubital pterygium syndrome has been documented on the Indian Ocean Island of Rodrigues, and 11 affected family members in five generations have been studied over four decades. The consistent features include a fleshy web extending across the anterior aspect of the cubital fossa, absence ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1988.tb02617.x
更新日期:1988-07-01 00:00:00
abstract::There has been a paucity of research into the psychosocial impact of juvenile Huntington's disease (JHD) on the child and the family. The study reported here is part of larger project that aimed to address this and investigate the social and health care needs of those affected by JHD. Ten semistructured interviews wit...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2006.00624.x
更新日期:2006-06-01 00:00:00
abstract::A new modification of currently utilized methods of processing cell cultures of whole peripheral blood for obtaining chromosome preparations necessary for differential staining (Q, G and C) is proposed. After the usual hypotonic treatment of cultures, a 3%-5% aquaeous solution of glacial acetic acid is added to the ce...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1983.tb00077.x
更新日期:1983-10-01 00:00:00
abstract::We report a case of trisomy 13 with cystic hygroma and generalized hydrops fetalis diagnosed prenatally by routine ultrasound prior to genetic amniocentesis in a 34-year-old woman. Although fetal cystic hygroma is usually associated with a 45,X karyotype, this and other previous reports suggest that it may be seen in ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1983.tb00091.x
更新日期:1983-11-01 00:00:00
abstract::The Schimmelpenning-Feuerstein-Mims syndrome (SFM), characterized by linear nevus sebaceous and ocular and neurologic abnormalities, is a sporadic condition without known familial cases or etiology. We report the occurrence of SFM in only one of two monozygotic (MZ) twins. After considering a variety of possible causa...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb02394.x
更新日期:1996-11-01 00:00:00
abstract::Sudden cardiac death (SCD) has an enormous impact on those who are left behind, evoking strong feelings of anxiety and incomprehension because such a dramatic event was not anticipated. Moreover, over the last decade a prominent genetic contribution to the pathogenesis of SCD has been unveiled. As many inherited cardi...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.12519
更新日期:2015-08-01 00:00:00
abstract::The presence of Y chromosome sequences in Turner syndrome (TS) patients may predispose them to gonadoblastoma formation with an estimated risk of 15-25%. The aim of this study was to determine the presence and the incidence of cryptic Y chromosome material in the genome of TS patients. The methodology involved a combi...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1998.tb02691.x
更新日期:1998-04-01 00:00:00
abstract::Analysis of data from 56,664 marriages in Turkey studied from 1970 to 1988 showed an overall rate of consanguineous marriages, of 21.25%, and increases in the rates of abortions, stillbirths, prenatal losses and neonatal deaths. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1989.tb03183.x
更新日期:1989-09-01 00:00:00
abstract::A Sicilian family is reported in which 36 individuals, in 5 successive generations, were affected with congenital cataracts, microcornea and myopia with an autosomal pattern of inheritance. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1985.tb01216.x
更新日期:1985-07-01 00:00:00
abstract::A mild type of autosomal recessive, non-syndromic mental retardation (NSMR) is linked to loci on chromosome 3p. This report delimits the MRT2A minimal critical region to 4.2 Mb between loci D3S3630 and D3S1304. This interval contains nine genes (IL5RA, TRNT1, LRRN1, SETMAR, SUMF1, ITPR1, BHLHB2, EDEM, and MRPS36P1). T...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.0009-9163.2004.00267.x
更新日期:2004-06-01 00:00:00
abstract::The hypothalamus plays a critical role in the regulation of food intake and body weight, and recent work has defined a core circuitry in the hypothalamus that appears to mediate many of the effects of the adipocyte-derived hormone leptin on feeding and glucose homeostasis. However, until recently, little was known abo...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.2006.00684.x
更新日期:2006-10-01 00:00:00