Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

abstract：:Two hundred and seventy-four patients with hemochromatosis and 1005 controls were HLA-typed, and HLA haplotypes were determined for 163 patients and 123 controls. The increased frequency of antigen A3 and haplotypes A3, B7 and A3, B14 in patients with hemochromatosis was confirmed. After correction for the space taken...

journal_title：Clinical genetics

authors： Le Mignon L,Simon M,Fauchet R,Edan G,Le Reun M,Brissot P,Genetet B,Bourel M

更新日期：1983-09-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) usually becomes symptomatic between the third and fifth decades. We studied ten families segregating for ADPKD in which children were observed with typical manifestations of the disease at birth or in early childhood. In these families, linkage analysis was carried ...

journal_title：Clinical genetics

authors： Gal A,Wirth B,Kääriäinen H,Lucotte G,Landais P,Gillessen-Kaesbach G,Müller-Wiefel DE,Zerres K

更新日期：1989-01-01 00:00:00

abstract：:CuZnSOD is produced in overdose in cells with trisomy 21. This has been considered to be a cause of increased oxidative stress. In the present work we have studied the catalase and glutathione peroxidase activity in fibroblasts from 6, and blood cells from 30, subjects affected by Down syndrome. In the fibroblasts, ca...

journal_title：Clinical genetics

authors： Crosti N,Bajer J,Gentile M,Resta G,Serra A

更新日期：1989-08-01 00:00:00

abstract：:Phytohaemagglutinin induces interferon-gamma synthesis in lymphocyte cultures from healthy individuals. We report two sibs with recurrent infections, selective IgA deficiency, and reduced blast transformation index under PHA-stimulation, without interferon-gamma response. ...

journal_title：Clinical genetics

authors： Tzoneva M,Ganev V,Galabov A,Georgieva K

更新日期：1988-06-01 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：:This study explored the role of TCOF1 insertion mutations in Taiwanese patients with craniofacial anomalies. Twelve patients with single or multiple, asymmetrical congenital craniofacial anomalies were enrolled. Genomic DNA was prepared from leukocytes; the coding regions of TCOF1 were analyzed by polymerase chain rea...

journal_title：Clinical genetics

authors： Su PH,Liu YF,Yu JS,Chen JY,Chen SJ,Lai YJ

更新日期：2012-11-01 00:00:00

abstract：:Marfan syndrome is a clinically and allelic heterogeneous, heritable connective tissue disorder with infrequently reported neuromuscular features. This study is the first to delineate these symptoms in a non-selected population. Neuromuscular involvement was evaluated in 10 Marfan patients through a standardized quest...

journal_title：Clinical genetics

authors： Voermans Nc,Timmermans J,van Alfen N,Pillen S,op den Akker J,Lammens M,Zwarts MJ,van Rooij IA,Hamel BC,van Engelen BG

更新日期：2009-07-01 00:00:00

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 w...

journal_title：Clinical genetics

authors： Goldblatt J,Ballo R,Sachs B,Moosa A

更新日期：1989-02-01 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：:Whole-exome sequencing (WES) has transformed our ability to detect mutations causing rare diseases. FORGE (Finding Of Rare disease GEnes) and Care4Rare Canada are nation-wide projects focused on identifying disease genes using WES and translating this technology to patient care. Rare forms of epilepsy are well-suited ...

journal_title：Clinical genetics

authors： Dyment DA,Tétreault M,Beaulieu CL,Hartley T,Ferreira P,Chardon JW,Marcadier J,Sawyer SL,Mosca SJ,Innes AM,Parboosingh JS,Bulman DE,Schwartzentruber J,Majewski J,Tarnopolsky M,Boycott KM,FORGE Canada Consortium.,Care4Rar

更新日期：2015-07-01 00:00:00

abstract：:Next-generation sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing and increasing the throughput. Now, the focus is on using NGS technology for diagnostics and therapeutics. In this review, we discuss the possible clinical applications of NGS and the potential of some of the current...

journal_title：Clinical genetics

authors： Desai AN,Jere A

更新日期：2012-06-01 00:00:00

abstract：:In the rare developmental disorder Roberts' syndrome, prophase and metaphase chromosomes display premature sister-chromatid separation, most prominently at certain regions in which the chromatin is composed of highly reiterated base sequences. In addition, interphase nuclei present a striking distortion in their conto...

journal_title：Clinical genetics

authors： German J

更新日期：1979-12-01 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：:In the present paper we report the first example of fertility in a female with isodicentric X-formation and karyotype 45,X/46,X,del(X)(pter----p21.3)/46,X,idic(X)(qter----p21.3::p21.3- ---qter). Her daughter was phenotypically almost normal and presented a 46,X,del(X)(pter----p21.3) karyotype in all examined cells. ...

journal_title：Clinical genetics

authors： Fryns JP,Kleczkowska A,Debucquoy P,van den Berghe H

更新日期：1988-11-01 00:00:00

abstract：:Neurofibromatosis-Noonan syndrome (NFNS) has been described as a unique phenotype, combining manifestations of neurofibromatosis type 1 (NF1) and Noonan syndrome, which are separate syndromes. Potential etiologies of NFNS include a discrete syndrome of distinct etiology, co-segregation of two mutated common genes, var...

journal_title：Clinical genetics

authors： Stevenson DA,Viskochil DH,Rope AF,Carey JC

更新日期：2006-03-01 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

authors： Rasmussen K,Nielsen J,Dahl G

更新日期：1982-11-01 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：:Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. Three genes are implicated in causing ADPKD. One on chromosome 16, PKD1, accounts for 85-90% of al...

journal_title：Clinical genetics

authors： Deltas CC,Christodoulou K,Tjakouri C,Pierides A

更新日期：1996-07-01 00:00:00

abstract：:In this report, a case with corpus callosum dysgenesis, infantile spasm, microcephaly, psychomotor retardation, exophthalmos, cleft lip-palate and abnormal EEG findings is presented. His parents are first-degree relatives. We could not fully match the findings of our patient with the criteria of any syndrome published...

journal_title：Clinical genetics

authors： Tütüncüoglu S,Ozkinay F,Genel F,Uran N,Ozgür T

更新日期：1996-04-01 00:00:00

abstract：:A family with three children with Waardenburg syndrome born to normal, unrelated parents is reported. This appears to be the first report suggesting germ-line mosaicism in Waardenburg syndrome. ...

journal_title：Clinical genetics

authors： Kapur S,Karam S

更新日期：1991-03-01 00:00:00

abstract：:Molecular testing of patients with autosomal dominant hypercholesterolemia (ADH) fails to detect a causal functional mutation in 15.25% of subjects. We studied an ADH pedigree in which known ADH-causing genes (LDLR, APOB and PCSK9) were excluded. Genome-wide analysis on 15 family members detected significant associati...

journal_title：Clinical genetics

authors： Cenarro A,García-Otín AL,Tejedor MT,Solanas M,Jarauta E,Junquera C,Ros E,Mozas P,Puzo J,Pocoví M,Civeira F

更新日期：2011-05-01 00:00:00

abstract：:Depression during pregnancy can have serious consequences for families. Indications of fetal aneuploidy can induce maternal stress, a risk factor for depression. Few studies have assessed symptoms of depression in pregnant women soon after they receive results indicating increased risk for fetal aneuploidy. We compare...

journal_title：Clinical genetics

authors： Hippman C,Oberlander TF,Honer WG,Misri S,Austin JC

更新日期：2009-01-01 00:00:00

abstract：:A 15-year-old male was referred for management of scoliosis secondary to congenital vertebral anomalies. Cytogenetic analysis was performed because of multiple congenital malformations. The patient was found to have a mosaic 46,XY/48,XXY,+8 chromosome complement with the characteristic clinical and dermatoglyphic feat...

journal_title：Clinical genetics

authors： Casey PA,Clark CE,Cowell HR

更新日期：1981-07-01 00:00:00

abstract：:With the use of more stringent diagnostic criteria, it has recently been shown that some large pedigrees of Alport's and non-Alport's hereditary nephritis fit sex-linked dominant inheritance (O'Neill et al. 1978). We have used similar diagnostic criteria and have studied a number of Michigan pedigrees in order to see ...

journal_title：Clinical genetics

authors： Evans SH,Erickson RP,Kelsch R,Peirce JC

更新日期：1980-04-01 00:00:00

abstract：:Fluorescent in situ hybridization with probes specific for a chromosomal subregion and chromosome-specific libraries (chromosome painting) are important new methods for assessing chromosome rearrangements. In this paper we present four patients with additional chromosomal material on chromosome 8p who have been studie...

journal_title：Clinical genetics

authors： Engelen JJ,de Die-Smulders CE,Fryns JP,Hoovers JM,Albrechts JC,Loots WJ,Jacobs ME,Hamers AJ

更新日期：1994-04-01 00:00:00

abstract：:Hereditary hydronephrosis is a rare condition but several families are described in the literature. The inheritance pattern is autosomal dominant (McKusick number 143400) but the exact aetiology of the hydronephrosis is not clear. However, linkage with the HLA region on chromosome six has been shown previously. We rep...

journal_title：Clinical genetics

authors： McHale D,Porteous ME,Wentzel J,Burn J

更新日期：1996-12-01 00:00:00

abstract：:A female infant with multiple dysmorphic features and developmental delay was found to have partial duplication of the long arm of chromosome 2 and partial deletion of the long arm of chromosome 11 derived from a paternal balanced translocation, 46,XY,t(2;11)(q33:q25). Clinically, the infant had features of both 2q+ a...

journal_title：Clinical genetics

authors： Ardinger HH,Patil SR,Rhead WJ

更新日期：1987-06-01 00:00:00

abstract：:We describe a family with recurrent 11q23-qter deletion Jacobsen syndrome in two affected brothers, with unique mosaic deletion 'rescue' through development of uniparental disomy (UPD) in the mother and one of the brothers. Inheritance studies show that the deleted chromosome is of maternal origin in both boys, and mi...

journal_title：Clinical genetics

authors： Johnson JP,Haag M,Beischel L,McCann C,Phillips S,Tunby M,Hansen J,Schwanke C,Reynolds JF

更新日期：2014-04-01 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：:Over the past few years, we have conducted a systematic study of 230 cystic fibrosis (CF) chromosomes in the Saguenay Lac-Saint-Jean (SLSJ) population which has a high CF incidence (1/936 live births). We identified 11 mutations accounting for 100% of the CF chromosomes found in patients born in SLSJ. Our results indi...

journal_title：Clinical genetics

authors： De Braekeleer M,Mari C,Verlingue C,Allard C,Leblanc JP,Simard F,Aubin G,Férec C

更新日期：1998-01-01 00:00:00