A supernumerary microchromosome in amniotic cell cultures and talipes equinovarus in a live born female.

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

authors： Kondo I,Hamabe J,Yamamoto K,Niikawa N

更新日期：1990-12-01 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：: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：:We describe a family in which three sibs are compound heterozygotes for two rather rare CFTR splice-site mutations, the 621 + 1G-->T and the 711 + 1G-->T mutations. Little phenotypic variation was observed between sibs, of whom two are deceased. Their disease is characterized by pancreatic insufficiency, a severe pulm...

journal_title：Clinical genetics

authors： De Braekeleer M,Simard F,Aubin G

更新日期：1997-03-01 00:00:00

abstract：:Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecti...

journal_title：Clinical genetics

authors： Schönewolf-Greulich B,Tejada MI,Stephens K,Hadzsiev K,Gauthier J,Brøndum-Nielsen K,Pfundt R,Ravn K,Maortua H,Gener B,Martínez-Bouzas C,Piton A,Rouleau G,Clayton-Smith J,Kleefstra T,Bisgaard AM,Tümer Z

更新日期：2016-06-01 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

authors： Sandhaus YS,Ben-Ami T,Chechick A,Goodman RM

更新日期：1987-03-01 00:00:00

abstract：:Cystic fibrosis (CF) is considered as a rare disease in black Africans. In fact, this disease is likely to be underestimated since clinical features consistent with CF diagnosis are often ascribed to environmental factors such as malnutrition. Very little is known about CFTR mutations in affected patients from Central...

journal_title：Clinical genetics

authors： Feuillet-Fieux MN,Ferrec M,Gigarel N,Thuillier L,Sermet I,Steffann J,Lenoir G,Bonnefont JP

更新日期：2004-04-01 00:00:00

abstract：:Lysine methyltransferase 2D (KMT2D; OMIM 602113) encodes a histone methyltransferase involved in transcriptional regulation of the beta-globin and estrogen receptor as part of a large protein complex known as activating signal cointegrator-2-containing complex (ASCOM). Heterozygous germline mutations in the KMT2D gene...

journal_title：Clinical genetics

authors： Tekendo-Ngongang C,Kruszka P,Martinez AF,Muenke M

更新日期：2019-09-01 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：:A boy with Prader-Willi syndrome was found to have an inversion of chromosome 15,[46,XY,inv(15)(p13q13)]. His unaffected father has an apparently identical inversion of chromosome 15 but in addition has a number 14 chromosome with double satellites. This report supports previous indications of a relationship between a...

journal_title：Clinical genetics

authors： Winsor EJ,Welch JP

更新日期：1983-12-01 00:00:00

abstract：:In this report, we describe a male infant with a 45,X karyotype; the entire short arm and the centromere of the Y chromosome were translocated onto the short arm of chromosome 18, resulting in an unbalanced dicentric chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal Y...

journal_title：Clinical genetics

authors： Gimelli G,Cinti R,Varone P,Naselli A,Di Battista E,Pezzolo A

更新日期：1996-01-01 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

authors： Ibraimov AI

更新日期：1983-10-01 00:00:00

abstract：:A family is presented with hyperexplexia, a rare autosomal dominant neurological disorder. Affected individuals manifest flexor hypertonia and hypokinesia during infancy. Later and throughout life, the condition is characterized by exaggerated involuntary myoclonic startle reactions, which on occasion result in fallin...

journal_title：Clinical genetics

authors： Morley DJ,Weaver DD,Garg BP,Markand O

更新日期：1982-06-01 00:00:00

abstract：:Genetic testing has the potential to guide the prevention and treatment of disease in a variety of settings, and recent technical advances have greatly increased our ability to acquire large amounts of genetic data. The interpretation of this data remains challenging, as the clinical significance of genetic variation ...

journal_title：Clinical genetics

authors： Eggington JM,Bowles KR,Moyes K,Manley S,Esterling L,Sizemore S,Rosenthal E,Theisen A,Saam J,Arnell C,Pruss D,Bennett J,Burbidge LA,Roa B,Wenstrup RJ

更新日期：2014-09-01 00:00:00

abstract：:Cutis laxa is described in three cases: a 17-year-old man, his mother and his maternal grandmother. The onset of skin symptoms occurred from puberty to early adulthood. The skin was loose-hanging, wrinkled and without elasticity. X-ray examination showed numerous gastrointestinal diverticulae in the two older patients...

journal_title：Clinical genetics

authors： Damkier A,Brandrup F,Starklint H

更新日期：1991-05-01 00:00:00

abstract：:Mental retardation associated with short stature, craniofacial dysmorphism, macrodontia and minor skeletal anomalies is reported in two sisters and their mother. The similarity with and the relationship to the KBG syndrome is discussed and the importance of clinical syndrome identification in familial mental retardati...

journal_title：Clinical genetics

authors： Fryns JP,Haspeslagh M

更新日期：1984-07-01 00:00:00

abstract：:Rhizomelic chondrodysplasia punctata (RCDP), a peroxisomal disorder, is considered to be a lethal neonatal autosomal recessive chondrodysplasia. We report five patients, three of whom survived beyond 1 year, and we summarize the findings in 21 patients from a literature review who survived beyond 1 year. In those pati...

journal_title：Clinical genetics

authors： Wardinsky TD,Pagon RA,Powell BR,McGillivray B,Stephan M,Zonana J,Moser A

更新日期：1990-08-01 00:00:00

abstract：:A group of 63 families from the Pomerania-Kujawy region were analyzed for three BRCA1 gene Polish founder mutations, 5382insC, 300T>G, and 4153delA, because of breast (BrCa) and/or ovarian cancer (OvCa) history. The analysis was carried out by multiplex polymerase chain reaction method. BRCA1 mutation was revealed in ...

journal_title：Clinical genetics

authors： Janiszewska H,Haus O,Lauda-Swieciak A,Pasińska M,Laskowski R,Szymański W,Górski B,Lubiński J

更新日期：2003-12-01 00:00:00

abstract：:The concurrence of a short arm isochromosome and a translocation of the entire long arm of the same chromosome to a telomere of another chromosome, implying trisomy for 4p, 5p, 7p, 9p, 10p or 12p, has been described in 13 patients. We have now used fluorescence in situ hybrization (FISH) to better characterize one of ...

journal_title：Clinical genetics

authors： Rivera H,Vásquez AI,Perea FJ

更新日期：1999-02-01 00:00:00

abstract：:Long non-coding RNAs (lncRNAs), a class of long RNAs, are longer than 200 nucleotides in length but lack protein-coding capacity. LncRNAs, as critical genomic regulators, are involved in genomic imprinting regulation, histone modification and gene expression regulation as well as tumor initiation and progression. Howe...

journal_title：Clinical genetics

authors： Zhang HD,Jiang LH,Zhong SL,Li J,Sun DW,Hou JC,Wang DD,Zhou SY,Tang JH

更新日期：2021-01-01 00:00:00

abstract：:The life-span of Menkes syndrome patients is discussed in connection with a boy suffering from this disease who lived to the age of 13.5 years. The copper metabolism defect is described. Therapeutic trials, mainly copper substitution, and prospects are summed up. ...

journal_title：Clinical genetics

authors： Sander C,Niederhoff H,Horn N

更新日期：1988-03-01 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：:Mutations in the CDH23 gene are known to be responsible for both Usher syndrome type ID (USH1D) and non-syndromic hearing loss (DFNB12), and the molecular confirmation of the CDH23 gene has become important in the diagnosis of these conditions. The present study was performed to find whether the CDH23 mutations are al...

journal_title：Clinical genetics

authors： Wagatsuma M,Kitoh R,Suzuki H,Fukuoka H,Takumi Y,Usami S

更新日期：2007-10-01 00:00:00

abstract：:We describe an 11-year-old girl with PLACK Syndrome (peeling skin, leukonychia, acral punctate keratosis, cheilitis, and knuckle pads), who was found to have a novel homozygous variant in CAST, the pathogenicity of which was confirmed using blood-derived RNA. There is no established treatment for PLACK syndrome. Howev...

journal_title：Clinical genetics

authors： Sawan ZA,Almehaidib A,Binamer Y,Monies D,Alsaleem KA,Aldekhail W,Alkuraya FS,Abanemai M

更新日期：2021-01-07 00:00:00

abstract：:Disorders of the Ras/mitogen-activated protein kinase (MAPK) pathway have an overlapping skeletal phenotype (e.g. scoliosis, osteopenia). The Ras proteins regulate cell proliferation and differentiation and neurofibromatosis type 1 (NF1) individuals have osteoclast hyperactivity and increased bone resorption as measur...

journal_title：Clinical genetics

authors： Stevenson DA,Schwarz EL,Carey JC,Viskochil DH,Hanson H,Bauer S,Weng HY,Greene T,Reinker K,Swensen J,Chan RJ,Yang FC,Senbanjo L,Yang Z,Mao R,Pasquali M

更新日期：2011-12-01 00:00:00

abstract：:Neurofibromatosis 2 (NF2) is caused by mutations in the NF2 gene predisposing carriers to develop nervous system tumours. Different NF2 mutations result in either loss/reduced protein function or gain of protein function (abnormally behaving mutant allele i.e. truncated protein potentially causing dominant negative ef...

journal_title：Clinical genetics

authors： Selvanathan SK,Shenton A,Ferner R,Wallace AJ,Huson SM,Ramsden RT,Evans DG

更新日期：2010-02-01 00:00:00

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：:In a Danish family highly susceptible to ischemic heart disease, hyperlipidemia did not simply cosegregate with a previously undescribed 10 bp deletion in the LDL receptor gene causing heterozygous familial hypercholesterolemia (FH). This mutation, designated as FH DK-4, deletes 10 nucleotides from exon 4 coding for t...

journal_title：Clinical genetics

authors： Jensen HK,Hansen PS,Jensen LG,Kristensen MJ,Klausen IC,Kjeldsen M,Lemming L,Bolund L,Gregersen N,Faergeman O

更新日期：1995-07-01 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：:The molecular genetics of GM1 beta-galactosidase is reviewed. This enzyme exists in two forms, A and B. Form A is monomeric with a molecular weight of 72,000 and appears to be coded by a single autosomal locus. Form B is polymeric and cross-reacts with anti-A antibodies; it is coded wholly or in part by the same locus...

journal_title：Clinical genetics

authors： O'Brien JS

更新日期：1975-11-01 00:00:00