Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome.

abstract：:Glucocerebrosidase activity in extracts of leukocytes, Epstein-Barr virus transformed lymphocytes and fibroblasts from Portuguese Type 1 Gaucher disease patients was studied. The residual glucocerebrosidase activity in all extracts from patients was less than 25% if measured in the presence of bile salt taurocholate. ...

journal_title：Clinical genetics

authors： Sa Miranda MC,Aerts JM,Pinto R,Fontes A,de Lacerda LW,van Weely S,Barranger J,Tager JM

更新日期：1990-09-01 00:00:00

abstract：:For many years, a considerable number of patients with autoimmune diseases (ADs) have suffered from a lack of drug response and drug-related toxicity. Despite the emergence of new therapeutic options such as biological agents, patients continue to struggle with these problems. Unfortunately, new challenges, including ...

journal_title：Clinical genetics

authors： Tavakolpour S,Darvishi M,Ghasemiadl M

更新日期：2018-03-01 00:00:00

abstract：:4-Methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyranoside was synthesized and tested as a substrate for the diagnosis of GM2 gangliosidoses using leukocytes. Less than 2% of normal activity was measured in homogenates from patients with typical Tay-Sachs disease and from a patient with a variant form hav...

journal_title：Clinical genetics

authors： Inui K,Wenger DA

更新日期：1984-10-01 00:00:00

abstract：:During an investigation of cousin marriages in Iceland, five brothers and sisters were found to be homozygous for the "silent" allele of plasma cholinesterase. Clinical information on two family members is presented and discussed, and the possibility of the presence of a "nearly silent" plasma esterase allele, in one ...

journal_title：Clinical genetics

authors： Arnason A,Jensson O,Gudmundsson S

更新日期：1975-05-01 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

authors： Magnus P,Magnus EM,Berg K

更新日期：1991-04-01 00:00:00

abstract：:Mutations in IRF6 cause Van der Woude syndrome (VWS), one of the most common syndromes associated with cleft lip (CL) with or without cleft palate (CP). The presence of pits on the lower lip of patients is the most characteristic feature of the syndrome. We have identified three novel and seven previously reported IRF...

journal_title：Clinical genetics

authors： Malik S,Kakar N,Hasnain S,Ahmad J,Wilcox ER,Naz S

更新日期：2010-09-01 00:00:00

abstract：:We report a family in which a woman with the mosaic karyotype 45,X/46,X,del(X)(p21.2) transmitted the deleted X chromosome to two daughters. The nature of the deletion was confirmed by fluorescent in situ hybridization (FISH). All three family members showed somatic Ullrich-Turner syndrome features, but only one daugh...

journal_title：Clinical genetics

authors： Zinn AR,Ouyang B,Ross JL,Varma S,Bourgeois M,Tonk V

更新日期：1997-10-01 00:00:00

abstract：:In an epidemiological study, infants identified at birth as having sex chromosome anomalies are enrolled in a voluntary, long term evaluations program. Case histories are presented of the first four boys in the series to have a 47,XXY karyotype. They have been followed from birth for 6 to 9 years, with physical and ps...

journal_title：Clinical genetics

authors： Puck M,Tennes K,Frankenburg W,Bryant K,Robinson A

更新日期：1975-01-01 00:00:00

abstract：:We report on a patient with Marfan's syndrome, with coexistent obstructive sleep hypopnea (OSH) and restrictive lung disease, complicated by respiratory insufficiency, who was successfully treated with nasal intermittent positive airway pressure (NIPPV) and oxygen. NIPPV therapy turned out to be effective on arterial ...

journal_title：Clinical genetics

authors： Verbraecken J,Paelinck BP,Willemen M,Van de Heyning P,De Backer W

更新日期：2003-02-01 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

authors： Magnus P

更新日期：1984-10-01 00:00:00

abstract：:In the McCune-Albright syndrome, fibrous dysplasia of bones and various forms of endocrine dysfunction are associated with multiple pigmented skin lesions. Examination of a 4-year-old female patient and comparison with photographs published in the literature revealed that the cutaneous pigmentation is arranged in a sy...

journal_title：Clinical genetics

authors： Happle R

更新日期：1986-04-01 00:00:00

abstract：:A third case of an interstitial deletion of the long arm of chromosome 6 with clinical features mimicking Prader-Willi syndrome (PWS) is presented. Although preliminary clinical evaluation in each case suggested PWS, further review revealed that the features in all three cases are not completely compatible with the ch...

journal_title：Clinical genetics

authors： Stein CK,Stred SE,Thomson LL,Smith FC,Hoo JJ

更新日期：1996-06-01 00:00:00

abstract：:We present a family with adult onset autosomal dominant polycystic kidney disease (ADPKD) in two generations, linked to the PKD1 locus and with paternal transmission to the fetus. The fetus carried the PKD1 haplotype and was, therefore a gene carrier. Progressive hyperechogenic renal enlargement, but no cysts, was doc...

journal_title：Clinical genetics

authors： Jeffery S,Saggar-Malik AK,Economides DL,Blackmore SE,MacDermot KD

更新日期：1998-04-01 00:00:00

abstract：:Transient neonatal diabetes mellitus occurs in growth-retarded infants, has an incidence of 1 in 400000 live births and has been associated with both paternal uniparental disomy of chromosome 6 and paternal duplications of 6q. We analysed samples from our cohort of patients with transient neonatal diabetes mellitus fo...

journal_title：Clinical genetics

authors： Gardner RJ,Robinson DO,Lamont L,Shield JP,Temple IK

更新日期：1998-12-01 00:00:00

abstract：:Lymphoblastoid cell lines have been established from nine female patients with Duchenne muscular dystrophy who had previously been reported to have chromosome translocations with breakpoints in the Xp21 region. A detailed cytogenetic comparison of prometaphase chromosomes in these cell lines revealed that six of the t...

journal_title：Clinical genetics

authors： Boyd Y,Buckle VJ

更新日期：1986-02-01 00:00:00

abstract：:A 26-week gestation, premature neonate who developed a transient myeloproliferative disorder is presented. The morphological features of Down syndrome were not obvious at this gestational age, and the cytogenetic studies gave a misleading normal karyotype after the infant received non-irradiated blood. The diagnosis o...

journal_title：Clinical genetics

authors： Druce M,Cohen IJ,Naor N,Shohat M

更新日期：1995-10-01 00:00:00

abstract：:An MYH2 mutation p.(Glu706Lys) was originally described in a family with autosomal dominant inheritance, where the affected family members presented with multiple congenital contractures and ophthalmoplegia, progressing to a proximal myopathy in adulthood. Another patient with a dominant mutation p.(Leu1870Pro) was de...

journal_title：Clinical genetics

authors： Cabrera-Serrano M,Fabian VA,Boutilier J,Wise C,Faiz F,Lamont PJ,Laing NG

更新日期：2015-12-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is a rare pediatric ciliopathy characterized by marked clinical variability and extensive genetic heterogeneity. Typical diagnosis of BBS is secured at a median of 9 years of age, and sometimes well into adolescence. Here, we report a patient in whom prenatal detection of increased nuchal f...

journal_title：Clinical genetics

authors： Ashkinadze E,Rosen T,Brooks SS,Katsanis N,Davis EE

更新日期：2013-06-01 00:00:00

abstract：:RNA exosome is a highly conserved ribonuclease complex essential for RNA processing and degradation. Bi-allelic variants in exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively, while those in EXOSC2 cause short stature, hearing lo...

journal_title：Clinical genetics

authors： Somashekar PH,Kaur P,Stephen J,Guleria VS,Kadavigere R,Girisha KM,Bielas S,Upadhyai P,Shukla A

更新日期：2021-01-19 00:00:00

abstract：:Recurrent trisomy 21: four cases in three generations. While gonadal mosaicism can lead to recurrence of trisomy 21 (T21) for a single couple, the recurrence of free T21 in multiple members of a single pedigree has rarely been reported. We present an unusual pedigree with four cases of Down syndrome (DS) with free T21...

journal_title：Clinical genetics

authors： Gair JL,Arbour L,Rupps R,Jiang R,Bruyère H,Robinson WP

更新日期：2005-11-01 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

authors： Wafa TT,Faridi R,King KA,Zalewski C,Yousaf R,Schultz JM,Morell RJ,Muskett J,Turriff A,Tsilou E,Griffith AJ,Friedman TB,Zein WM,Brewer CC

更新日期：2021-02-01 00:00:00

abstract：:A study of Huntington's Chorea in South Wales has shown a prevalence of 7.61 per 100,000 in the counties of Gwent and Glamorgan, with a total population of 1.7 million. Heterozygote frequency is close to 1 in 5,000. Total ascertainment within this area has been attempted, and experience since conclusion of the study h...

journal_title：Clinical genetics

authors： Walker DA,Harper PS,Wells CE,Tyler A,Davies K,Newcombe RG

更新日期：1981-04-01 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

authors： Fredwall SO,Maanum G,Johansen H,Snekkevik H,Savarirayan R,Lidal IB

更新日期：2020-01-01 00:00:00

abstract：:Glucose-galactose malabsorption (GGM) is an autosomal recessive disease with life-threatening newborn diarrhea caused by mutations in the Na(+) /glucose cotransporter gene SLC5A1. Because of its rarity, the clinical course of the disease has not been well studied. Here, we report 33 patients with GGM from a large Old ...

journal_title：Clinical genetics

authors： Xin B,Wang H

更新日期：2011-01-01 00:00:00

abstract：:Approximately one in three individuals will be affected by cancer in their lifetime in the United States, and some are at elevated risk because of family history. Although assessment of family history of cancer and cancer risk is the standard of care, the current health-care system appears unable to meet this need. Be...

journal_title：Clinical genetics

authors： Kelly KM,Sweet K

更新日期：2007-01-01 00:00:00

abstract：:Autism spectrum disorder (ASD) represents a set of neurodevelopmental disorders with a strong genetic aetiology. Chromosomal rearrangements have been detected in 5-10% of the patients with ASD, and recent applications of array comparative genomic hybridisation (aCGH) are identifying further candidate regions and genes...

journal_title：Clinical genetics

authors： Ozgen HM,van Daalen E,Bolton PF,Maloney VK,Huang S,Cresswell L,van den Boogaard MJ,Eleveld MJ,van 't Slot R,Hochstenbach R,Beemer FA,Barrow M,Barber JC,Poot M

更新日期：2009-10-01 00:00:00

abstract：:It is well known that founder mutations associated with cancer risk have useful implications for molecular diagnostics. We report the presence of a founder mutation in EPCAM involved in the etiology of Lynch syndrome (LS). The mutation extends nearly 8.7 kb (c.858 + 2478_*4507del) and is shared by 8 Polish families. F...

journal_title：Clinical genetics

authors： Dymerska D,Gołębiewska K,Kuświk M,Rudnicka H,Scott RJ,Billings R,Pławski A,Boruń P,Siołek M,Kozak-Klonowska B,Szwiec M,Kilar E,Huzarski T,Byrski T,Lubiński J,Kurzawski G

更新日期：2017-12-01 00:00:00

abstract：:Most publications on the ethical aspects of genetic research into Alzheimer's Disease (AD) concentrate on the differences between the opinions of professionals and non-professionals. Differences in rating of morally relevant issues between groups of professionals have not yet been described. A modified Delphi study in...

journal_title：Clinical genetics

authors： van der Vorm A,van der Laan AL,Borm G,Vernooij-Dassen M,Olde Rikkert M,van Leeuwen E,Dekkers W

更新日期：2010-04-01 00:00:00

abstract：:The Vietnam Era Twin Registry (VETR) is a registry of 7375 American male veteran twin pairs born between 1939 and 1955 who served in the armed forces of the United States between 1964 and 1975. Optimal use of registry data requires the determination of zygosity. Two approaches are available: analysis of blood genetic ...

journal_title：Clinical genetics

authors： Eisen S,Neuman R,Goldberg J,Rice J,True W

更新日期：1989-06-01 00:00:00

abstract：:The concept of personality disorders is based on deviant personality traits in both the DSM-III-R and ICD-10 classifications. A diagnosis of personality disorder can be made reliably with structured interviews. Many individuals are diagnosed with more than one personality disorder, and other mental disorders are often...

journal_title：Clinical genetics

authors： Dahl AA

更新日期：1994-07-01 00:00:00