Clinical and molecular aspects of aniridia.

abstract：:We present a dysmorphic syndrome in eight males of the same family (four brothers, three cousins and one uncle) that is characterised by: mental retardation, facial dysmorphia, abnormal growth of teeth, skin dimple at the lower back, clinodactyly, patella luxation, malformation of lower limbs, abnormalities of the fun...

journal_title：Clinical genetics

authors： Prieto F,Badía L,Mulas F,Monfort A,Mora F

更新日期：1987-11-01 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

authors： Patsalis PC,Sismani C,Hadjimarcou MI,Kitsiou-Tzeli S,Tzezou A,Hadjiathanasiou CG,Velissariou V,Lymberatou E,Moschonas NK,Skordis N

更新日期：1998-04-01 00:00:00

abstract：:To determine the mutations of Southern Chinese with Duchenne and Becker muscular dystrophies (DMD, BMD), we analysed 28 DMD and BMD patients in 24 unrelated families for intragenic deletions and duplications by using cDNA probes covering the entire 14 kb of the dystrophin gene. Deletions were detected in nine unrelate...

journal_title：Clinical genetics

authors： Lau YL,Srivastava G,Wong V,Liu YT,Ho FC,Yeung CY

更新日期：1992-05-01 00:00:00

abstract：:Reassessment of the cytogenetics of a patient previously karyotyped as del(16)(q22) demonstrates the presence of a balanced translocation, t(4;16)(q35;q22.1). This patient should not be included in any future comparison involving the clinical features of patients with deletions of the long arm of chromosome 16. ...

journal_title：Clinical genetics

authors： Callen DF,Baker EG,Lane SA

更新日期：1990-12-01 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

authors： Al-Thihli K,Afting C,Al-Hashmi N,Mohammed M,Sliwinski S,Al Shibli N,Al-Said K,Al-Kasbi G,Al-Kharusi K,Merle U,Füllekrug J,Al-Maawali A

更新日期：2020-11-15 00:00:00

abstract：:Cross syndrome is a rare syndrome characterized by ocular and cutaneous hypopigmentation and neurological manifestations. A few reports have been published since 1967. In this report, we present a new case of Cross syndrome with additional findings such as urinary tract abnormality, bilateral inguinal hernia, focal in...

journal_title：Clinical genetics

authors： Tezcan I,Demir E,Aşan E,Kale G,Müftüoğlu SF,Kotiloğlu E

更新日期：1997-02-01 00:00:00

abstract：:The mitochondrial 1555A>G mutation is one of the most common mutations responsible for hearing loss in Asians. Although the association with aminoglycoside exposure is well known, there is great variation in the severity of hearing loss. We analyzed hearing levels in 221 Japanese individuals with this mutation and att...

journal_title：Clinical genetics

authors： Lu SY,Nishio S,Tsukada K,Oguchi T,Kobayashi K,Abe S,Usami S

更新日期：2009-05-01 00:00:00

abstract：:In this review, we consider the motivation behind contemporary single nucleotide polymorphism (SNP) initiatives. Many of these initiatives are projected to involve large, population-based surveys. We therefore emphasize the utility of SNPs for genetic epidemiology studies. We start by offering an overview of genetic p...

journal_title：Clinical genetics

authors： Schork NJ,Fallin D,Lanchbury JS

更新日期：2000-10-01 00:00:00

abstract：:Glycogenosis type II (Pompe's disease) has been diagnosed using cultured amniotic cells for several years. In this paper, we present three prenatal diagnoses based on chorionic villi biopsy in three families at risk for Pompe's disease juvenile form: a normal fetus that was diagnosed and confirmed by enzymatic assay o...

journal_title：Clinical genetics

authors： Besançon AM,Castelnau L,Nicolesco H,Dumez Y,Poenaru L

更新日期：1985-05-01 00:00:00

abstract：:Hereditary non-polyposis colorectal cancer (HNPCC), the most common type of hereditary colorectal cancer, is thought to be a simple Mendelian disease involving DNA mismatch repair genes. The majority of mutations associated with HNPCC occur in the hMSH2 and hMLH1 genes. The reported incidence of mismatch repair gene m...

journal_title：Clinical genetics

authors： Wei SC,Yu CY,Tsai-Wu JJ,Su YN,Sheu JC,Wu CH,Wang CY,Wong JM

更新日期：2003-09-01 00:00:00

abstract：:We report our findings in four cases of metachromatic leukodystrophy diagnosed in Greece during the last 4 years. The age of onset and the clinical symptoms were those described for the late infantile form of the disease. However, one patient retained his speech and mental abilities despite his pronounced motor regres...

journal_title：Clinical genetics

authors： Michelakakis H,Dimitriou E,Bartsocas C,Skardoutsou A,Giouroukos S

更新日期：1990-01-01 00:00:00

abstract：:There are at least nine major cancer susceptibility syndromes that infer an increased risk for colorectal cancer and/or colorectal polyposis; hereditary nonpolyposis colorectal cancer syndrome, Muir-Torre syndrome, Turcot syndrome, the I1307K polymorphism of the APC gene, familial adenomatous polyposis, attenuated fam...

journal_title：Clinical genetics

authors： Hampel H,Peltomaki P

更新日期：2000-08-01 00:00:00

abstract：:Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis. A retrospective review of the clinical records and radiological images of 205 patients with tuberous sclerosis complex (TSC) was performed to evaluate the prevalence and progression of hepatic lesions; examine the association of...

journal_title：Clinical genetics

authors： Black ME,Hedgire SS,Camposano S,Paul E,Harisinghani M,Thiele EA

更新日期：2012-12-01 00:00:00

abstract：:A girl in whom a ring chromosome 13 was found, presented with microcephaly, mental retardation and multiple minor malformations. She was born after a full term pregnancy, small for date and with a small head circumference. She underwent craniotomy at the age of 18 months because of premature closure of the metopic sut...

journal_title：Clinical genetics

authors： Fried K,Rosenblatt M,Mundel G,Krikler R

更新日期：1975-03-01 00:00:00

abstract：:From a large Danish material of random families we selected families with dyslexia as reported by the families themselves and as recorded by a dyslexia institute. Among five "backcross families" studied for chromosome 15 polymorphisms we found only negative lod scores, and at theta = 0.10 a negative score of -3.42; i....

journal_title：Clinical genetics

authors： Bisgaard ML,Eiberg H,Møller N,Niebuhr E,Mohr J

更新日期：1987-08-01 00:00:00

abstract：:The frequency of rare fragile sites was studied among 240 children in special schools for subnormal intelligence (IQ 52-85). 1/130 boys studied (0.8%) had the fragile site at Xq27.3 while it was not found in any girl (0/110). In two children an autosomal rare fragile site at 2q11.2 (2/240, 0.8%) was seen. In addition ...

journal_title：Clinical genetics

authors： Kähkönen M,Leisti J,Thoden CJ,Autio S

更新日期：1986-09-01 00:00:00

abstract：:A 36-year-old man with schizoaffective disorder was found to have a de novo 46 XY inv (9) (q31.2q34.3). Phenotypical abnormalities are short stature, depressed nasal bridge, hypertelorism and slender shoulders. Paracentric inversion of chromosome 9 is a rare chromosome aberration. This case suggests a new candidate re...

journal_title：Clinical genetics

authors： Inayama Y,Yoneda H,Fukushima K,Sakai J,Asaba H,Sakai T

更新日期：1997-01-01 00:00:00

abstract：:The locus for a type of an autosomal recessive non-syndromic deafness (ARND), DFNB13, was previously mapped to a 17-cm interval of chromosome 7q34-36. We identified two consanguineous Tunisian families with severe to profound ARND. Linkage analyses with microsatellites surrounding the previously identified loci detect...

journal_title：Clinical genetics

authors： Masmoudi S,Charfedine I,Rebeh IB,Rebai A,Tlili A,Ghorbel AM,Belguith H,Petit C,Drira M,Ayadi H

更新日期：2004-10-01 00:00:00

abstract：:The characteristic clinical features of the dup(3q) syndrome include typical facial features, mental and growth retardation, and (often) congenital heart anomalies. However, pure duplication of 3qter is rare because most of the reported cases are patients who carry an unbalanced translocation and, in addition to the d...

journal_title：Clinical genetics

authors： Faas BH,De Vries BB,Van Es-Van Gaal J,Merkx G,Draaisma JM,Smeets DF

更新日期：2002-10-01 00:00:00

abstract：UNLABELLED:After a 4-year multidisciplinary study of albinism our findings will be presented here. Over a hundred albinos were examined, together with their heterozygote family members. Given this substantial patient and subject sample we were provided with the opportunity to: evaluate the results of standard diagnosti...

journal_title：Clinical genetics

authors： van Dorp DB

更新日期：1987-04-01 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

authors： Silengo MC,Luzzatti L,Centerwall WR,Costello JM,Parslow M

更新日期：1981-03-01 00:00:00

abstract：:In a study of 95 presumably healthy, 40-42-year old males from Northen Sweden, the Lp(a) phenotype distribution differed between those who had, and those who did not have one or more close relatives (parent or sib) with coronary heart disease. In the former group, 60% of the males were Lp(a+), as opposed to 28% in the...

journal_title：Clinical genetics

authors： Berg K,Dahlén G,Børresen AL

更新日期：1979-11-01 00:00:00

abstract：:The genetic underpinnings of recessively inherited moderate to severe sensorineural hearing loss are not well understood, despite its higher prevalence in comparison to profound deafness. We recruited 92 consanguineous families segregating stable or progressive, recessively inherited moderate or severe hearing loss. W...

journal_title：Clinical genetics

authors： Naz S,Imtiaz A,Mujtaba G,Maqsood A,Bashir R,Bukhari I,Khan MR,Ramzan M,Fatima A,Rehman AU,Iqbal M,Chaudhry T,Lund M,Brewer CC,Morell RJ,Friedman TB

更新日期：2017-04-01 00:00:00

abstract：:Split-hand/foot malformation (SHFM) is caused by mutations in TP63, DLX5, DLX6, FGF8, FGFR1, WNT10B, and BHLHA9. The clinical features of SHFM caused by mutations of these genes are not distinguishable. This implies that in normal situations these SHFM-associated genes share an underlying regulatory pathway that is in...

journal_title：Clinical genetics

authors： Kantaputra PN,Carlson BM

更新日期：2019-01-01 00:00:00

abstract：:Recently, bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole-exome sequencing. Our findings support the asso...

journal_title：Clinical genetics

authors： Orenstein N,Weiss K,Oprescu SN,Shapira R,Kidron D,Vanagaite-Basel L,Antonellis A,Muenke M

更新日期：2017-06-01 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

authors： Mollica F,Li Volti S,Tomarchio S,Gangi A,Risiglione V,Gorgone G

更新日期：1985-07-01 00:00:00

abstract：:Myotonic dystrophy (MD) is an autosomal dominant disorder that has a high prevalence in Saguenay-Lac-St-Jean. A case-control study, based on a population register, of 373 MD patients who married in this region between 1855 and 1971 was conducted to determine whether their fertility was affected by the disorder. Six de...

journal_title：Clinical genetics

authors： Dao TN,Mathieu J,Bouchard JP,De Braekeleer M

更新日期：1992-11-01 00:00:00

abstract：:An extra G-positive band within the 9qh regions is reported as a new chromosome 9 variant. This variant may have been more prevalent than has hitherto been perceived. Due to its small size, this extra band might not be readily recognizable in routine G-staining. ...

journal_title：Clinical genetics

authors： Hoo JJ

更新日期：1992-03-01 00:00:00

abstract：:XLαs, the extra-large isoform of alpha-subunit of the stimulatory guanine nucleotide-binding protein (Gsα), is paternally expressed. The significance of XLαs in humans remains largely unknown. Here, we report a patient who presented with increased bone mass, hypophosphatemia, and elevated parathyroid hormone (PTH) lev...

journal_title：Clinical genetics

authors： Chen X,Meng Y,Tang M,Wang Y,Xie Y,Wan S,Tian H,Yu X

更新日期：2020-05-01 00:00:00

abstract：:The nitric oxide synthase (NOS) gene is thought to be associated with essential hypertension (EH), because NO is implicated in endothelium-mediated vasodilation. We investigated the possible association between the alleles of simple tandem repeat DNA polymorphism of the endothelial constitutive NOS (cNOS) gene and EH ...

journal_title：Clinical genetics

authors： Nakayama T,Soma M,Takahashi Y,Izumi Y,Kanmatsuse K,Esumi M

更新日期：1997-01-01 00:00:00