46,XY/48,XXY, +8 in a male with clinical and dermatoglyphic features of mosaic trisomy 8 syndrome.

abstract：:An isodicentric X-chromosome idic(X) (pter----q26.1::q26.1----pter) was found in lymphocytes and ovarian tissue of a 40-year-old female patient with secondary amenorrhea. No mosaicism was observed. The phenotype-karyotype correlation of our case and of previously described non-mosaic cases of idic(X) (q::q) with diffe...

journal_title：Clinical genetics

authors： Ponzio G,Chiodo F,Messina M,Surico N,Libanori E,Folpini E,Porcelli A,Marchese C

更新日期：1987-07-01 00:00:00

abstract：:Alzheimer's Disease (AD) is a devastating disease that affects millions of elderly persons. Despite years of intense investigations, genetic risk factors that affect the majority of AD cases have yet to be determined. Recent studies suggest that cholesterol metabolism has integral part in AD pathogenesis, suggesting t...

journal_title：Clinical genetics

authors： Wellington CL

更新日期：2004-07-01 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：:CHARGE syndrome is a multiple congenital anomaly syndrome that can be life-threatening in the neonatal period. Complex heart defects, bilateral choanal atresia, esophageal atresia, severe T-cell deficiency, and brain anomalies can cause neonatal death. As little is known about the causes of death in childhood and adol...

journal_title：Clinical genetics

authors： Bergman JE,Blake KD,Bakker MK,du Marchie Sarvaas GJ,Free RH,van Ravenswaaij-Arts CM

更新日期：2010-03-01 00:00:00

abstract：:The most relevant phenotypic features seen in both proximal and distal partial trisomy 13 have been identified from a review of 35 cases. Clinical delineation of either proximal or distal partial trisomy 13 has been demonstrated through the use of conspicuous phenotypic differences. The findings of persistent foetal H...

journal_title：Clinical genetics

authors： Rogers JF

更新日期：1984-03-01 00:00:00

abstract：:Extended genealogical studies stretching back to the 17th century were performed concerning the heredity patterns of vitreous involvement in Swedish patients with familial amyloidotic polyneuropathy (FAP). FAP is an autosomal dominant inherited disorder, characterized by extracellular deposition of amyloid and a clini...

journal_title：Clinical genetics

authors： Sandgren O,Drugge U,Holmgren G,Sousa A

更新日期：1991-12-01 00:00:00

abstract：:The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are 2 rare but clinically well-described diseases caused by de novo heterozygous sequence variants in the KAT6B gene. Both phenotypes are characterized by significant global developmental delay/intellectual dis...

journal_title：Clinical genetics

authors： Lonardo F,Lonardo MS,Acquaviva F,Della Monica M,Scarano F,Scarano G

更新日期：2019-02-01 00:00:00

abstract：:Primary cilia are microtubule-rich hair-like extensions protruding from the surface of most post-mitotic cells. They act as sensory organelles that help interpret various environmental cues. Mutations in genes encoding proteins involved in ciliogenesis or protein transport to the primary cilia lead to a wide variety o...

journal_title：Clinical genetics

authors： Ramamurthy V,Cayouette M

更新日期：2009-08-01 00:00:00

abstract：:Three siblings of Indian stock had profound bilateral conductive deafness with variable malformations of the external ears, stapedial abnormalities and facial paralysis. Their mother was similarly affected and inheritance of this private syndrome is evidently autosomal dominant. Some improvement of auditory function w...

journal_title：Clinical genetics

authors： Sellars S,Beighton P

更新日期：1983-05-01 00:00:00

abstract：:Severe deficiency of arylsulphatase A (ARSA) activity was detected in a boy with delayed psychomotor development, coarse face and liver enlargement when he was aged 2. The case does not fit into the description of the Metachromatic leukodystrophy (MLD) proposed by Hagberg (1963) mainly because he did not deteriorate. ...

journal_title：Clinical genetics

authors： Danesino C,D'Azzo A,Aricò M,Podestà AF,Beluffi G,Bianchi E

更新日期：1984-11-01 00:00:00

abstract：:An aneuploid karyotype with an extra submetacentric C-group chromosome was observed in all metaphase cells in 5 of 24 primary amniotic fluid cell clones and in admixture with normal cells in two additional clones. Trisomy 8 was demonstrated by R-banding. The parents elected to terminate the pregnancy. Successful cultu...

journal_title：Clinical genetics

authors： Swisshelm K,Rodriguez ML,Luthy D,Salk D,Norwood T

更新日期：1981-10-01 00:00:00

abstract：:We utilized a sample of 299 adult females aged between 19 and 86 years, carrying fragile X mental retardation (FMR1) alleles with small CCG expansions ranging from 50 to 141 repeats to analyse the relationships between psychological symptoms as assessed by the Symptom Checklist-90-Revised (SCL-90-R) and the size of th...

journal_title：Clinical genetics

authors： Loesch DZ,Bui MQ,Hammersley E,Schneider A,Storey E,Stimpson P,Burgess T,Francis D,Slater H,Tassone F,Hagerman RJ,Hessl D

更新日期：2015-02-01 00:00:00

abstract：:Chromosomal analyses of cultured lymphocytes from nine patients with familial multiple endocrine adenomatosis (MEA) syndrome type I from six families and two patients - father and daughter - with familial MEA syndrome type II showed an increased frequency of chromosomal breakage. The frequency of sister chromatid exch...

journal_title：Clinical genetics

authors： Gustavson KH,Jansson R,Oberg K

更新日期：1983-02-01 00:00:00

abstract：:An indirect method for estimating the birth prevalence of the Crouzon syndrome is presented. The fraction of Crouzon syndrome patients in large clinical surveys of all cases of craniosynostosis is calculated and the fractional component obtained is multiplied by the known birth prevalence of craniosynostosis in genera...

journal_title：Clinical genetics

authors： Cohen MM Jr,Kreiborg S

更新日期：1992-01-01 00:00:00

abstract：:Exome sequencing is being offered for children with undiagnosed conditions to identify a primary (causative) variant. Parental preferences for learning secondary (incidental) variants are largely unexplored. Our objective was to characterize values and beliefs that shape parents' preferences for learning their childre...

journal_title：Clinical genetics

authors： Sapp JC,Dong D,Stark C,Ivey LE,Hooker G,Biesecker LG,Biesecker BB

更新日期：2014-02-01 00:00:00

abstract：:Genetic modifiers of liver disease in cystic fibrosis Bartlett et al. (2009) The Journal of the American Medical Association 302: 1076-1083. ...

journal_title：Clinical genetics

authors： de Haan W

更新日期：2010-05-01 00:00:00

abstract：:Several genome-wide association studies (GWASs) in Caucasian populations have identified 12 loci that are significantly associated with migraine. More evidence suggests that serotonin receptors are also involved in migraine pathophysiology. In the present study, a case-control study was conducted in a cohort of 581 mi...

journal_title：Clinical genetics

authors： An XK,Fang J,Yu ZZ,Lin Q,Lu CX,Qu HL,Ma QL

更新日期：2017-08-01 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：:The canonical wingless (Wnt) and fibroblast growth factor (FGF) signaling pathways involving CTNNB1 and TBX4, respectively, are crucial for the regulation of human development. Perturbations of these pathways and disruptions from biological homeostasis have been associated with abnormal morphogenesis of multiple organ...

journal_title：Clinical genetics

authors： Karolak JA,Szafranski P,Kilner D,Patel C,Scurry B,Kinning E,Chandler K,Jhangiani SN,Coban Akdemir ZH,Lupski JR,Popek E,Stankiewicz P

更新日期：2019-10-01 00:00:00

abstract：:This report concerns two patients with clinical features typical for tetrasomy 18p syndrome. Chromosomal analysis revealed a male karyotype in both cases, with an additional small metacentric marker chromosome, putatively an i(18p). Fluorescent in situ hybridization with a chromosome 18-specific paint confirmed that t...

journal_title：Clinical genetics

authors： Back E,Toder R,Voiculescu I,Wildberg A,Schempp W

更新日期：1994-06-01 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

authors： Ginsberg H,Grabowski GA,Gibson JC,Fagerstrom R,Goldblatt J,Gilbert HS,Desnick RJ

更新日期：1984-08-01 00:00:00

abstract：:Metaphyseal anadysplasia (MANDP) is a rare autosomal recessive form of skeletal dysplasia characterized by normal length at birth and transitory bowing of the legs. Although several families with MANDP have been reported, homozygous mutations in the matrix metalloproteinase type 9 (MMP9) gene have been described in on...

journal_title：Clinical genetics

authors： Sharony R,Borochowitz Z,Cohen L,Shtorch-Asor A,Rosenfeld R,Modai S,Reinstein E

更新日期：2017-12-01 00:00:00

abstract：:A low arylsulphatase A activity was noted in the leukocytes and cultured skin fibroblasts of a child without any other symptoms of metachromatic leukodystrophy. Although the mother had a level of arylsulphatase commensurate with heterozygosity for the classical metachromatic leukodystrophy gene, the father had a vari...

journal_title：Clinical genetics

authors： Butterworth J,Broadhead DM,Keay AJ

更新日期：1978-10-01 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

authors： Butler MG,Hedges L,Hovis CL,Feurer ID

更新日期：1998-11-01 00:00:00

abstract：:Genetic heterogeneity has made the identification of genes related to hearing impairment a challenge. In the absence of a clear phenotypic aetiology, recurrence risk estimates are often based on family segregation and may be imprecise. We profiled by oligonucleotide array-CGH patients presenting non-syndromic hearing ...

journal_title：Clinical genetics

authors： Rosenberg C,Freitas ÉL,Uehara DT,Auricchio MTBM,Costa SS,Oiticica J,Silva AG,Krepischi AC,Mingroni-Netto RC

更新日期：2016-04-01 00:00:00

abstract：:Smoking behaviour is influenced by both genetic and environmental factors. Many years of twin and adoption studies have demonstrated that heritability is at least 50% responsible for both smoking initiation and smoking persistence. Furthermore, the extent, to which genetic and environmental factors contribute to smoki...

journal_title：Clinical genetics

authors： Li MD,Ma JZ,Beuten J

更新日期：2004-11-01 00:00:00

abstract：:Two brothers presented from birth with features characteristic of Sotos syndrome (cerebral gigantism): overgrowth, craniofacial abnormalities, and mental retardation with hyperactive and aggressive behavior. X-ray examination of the hands revealed imbalanced and advanced skeletal age in one, whereas anterior fontanel ...

journal_title：Clinical genetics

authors： Boman H,Nilsson D

更新日期：1980-12-01 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：:Two siblings born to consanguineous Bedouin parents and grandparents are reported with the phenotypic features of Ehlers-Danlos Syndrome (EDS), type VI. In addition, the affected individuals have a polyneuropathy as confirmed by nerve conduction velocity, electromyographic and muscle biopsy studies. We propose that th...

journal_title：Clinical genetics

authors： Farag TI,Schimke RN

更新日期：1989-02-01 00:00:00

abstract：:Debate continues as to why executive function (EF) continues to show impairments in children with early and continuously treated phenylketonuria (ECT-PKU). Using a mixed model, we measured EF in 10 adolescent children with ECT-PKU and 6 sibling controls, and examined associations between EF and (1) phenylalanine (phe)...

journal_title：Clinical genetics

authors： Sharman R,Sullivan K,Young R,McGill J

更新日期：2009-02-01 00:00:00