Dominant mesomelic dwarfism of the hypoplastic tibia, radius type.

abstract：:Specific mitochondrial enzymatic deficiencies in the catabolism of branched-chain amino acids cause methylmalonic aciduria (MMA), propionic acidemia (PA) and maple syrup urine disease (MSUD). Disease-causing mutations were identified in nine unrelated branched-chain organic acidurias (BCOA) patients. We detected eight...

journal_title：Clinical genetics

authors： Stojiljkovic M,Klaassen K,Djordjevic M,Sarajlija A,Brasil S,Kecman B,Grkovic S,Kostic J,Rodriguez-Pombo P,Desviat LR,Pavlovic S,Perez B

更新日期：2016-09-01 00:00:00

abstract：:A clinical, pathological and genetic study was made of 50 patients with retinoblastoma in the Newcastle Hospital region over the period 1931-1970 inclusive. Twenty-seven patients were affected in one eye only; 23 had bilateral tumours. The incidence of the tumour was approximately 1:16,000 live births. Bilateral cases...

journal_title：Clinical genetics

authors： Aherne GE,Roberts DF

更新日期：1975-10-01 00:00:00

abstract：:An emerging challenge facing those who are concerned about the efficacy of public health programs is to understand how information from the DNA revolution might be used to improve our ability to predict the initiation, progression and severity of a common disease having a complex multifactorial etiology. In the course...

journal_title：Clinical genetics

authors： Sing CF,Zerba KE,Reilly SL

更新日期：1994-07-01 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：:A seven-generation pedigree of apparent X-linked, nonspecific mental retardation is reported. There are 19 known affected males who appear to have received the gene through normal mothers. Retardation, lack of fine motor coordination, hyperactivity and a speech defect are the characteristics of affected individuals st...

journal_title：Clinical genetics

authors： Yarbrough KM,Howard-Peebles PN

更新日期：1976-02-01 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 13 subtypes of oral-facial-digital syndrome (OFDS) belong to the heterogeneous group of ciliopathies. Disease-causing genes encode for centrosomal proteins, components of the transition zone or proteins implicated in ciliary signaling. A unique consanguineous family presenting with an unclassified OFDS with skelet...

journal_title：Clinical genetics

authors： Thevenon J,Duplomb L,Phadke S,Eguether T,Saunier A,Avila M,Carmignac V,Bruel AL,St-Onge J,Duffourd Y,Pazour GJ,Franco B,Attie-Bitach T,Masurel-Paulet A,Rivière JB,Cormier-Daire V,Philippe C,Faivre L,Thauvin-Robinet C

更新日期：2016-12-01 00:00:00

abstract：:Two unrelated patients, aged 19 and 6 years, were studied and diagnosed as having Myhre syndrome (MS). This review, together with three previous cases, permits further delineation of MS. The main features are: short stature, mental retardation, blepharophimosis, muscular hypertrophy, decreased joint mobility, thick ca...

journal_title：Clinical genetics

authors： García-Cruz D,Figuera LE,Feria-Velazco A,Sánchez-Corona J,García-Cruz MO,Ramírez-Duenãs RM,Hernandez-Córdova A,Ruiz MX,Bitar-Alatorre WE,Ramírez-Dueñas ML

更新日期：1993-10-01 00:00:00

abstract：:Here we report two families with myotonic dystrophy (DM) in which the asymptomatic parent proved to be in a pre-mutation state. Polymerase chain reaction (PCR) analysis of the region spanning the CTG expansion demonstrated that one father of the proband possessed (CTG)n repeats of n = 12 and 44 copies and the other of...

journal_title：Clinical genetics

authors： Yamagata H,Kinoshita M,Komori T,Kondo I,Miki T

更新日期：1998-10-01 00:00:00

abstract：:Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced by cold since early childhood) and a high neonatal lethality. CS/CISS is a ...

journal_title：Clinical genetics

authors： Angius A,Uva P,Oppo M,Buers I,Persico I,Onano S,Cuccuru G,Van Allen MI,Hulait G,Aubertin G,Muntoni F,Fry AE,Annerén G,Stattin EL,Palomares-Bralo M,Santos-Simarro F,Cucca F,Crisponi G,Rutsch F,Crisponi L

更新日期：2019-05-01 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：:Mutation of SLC26A4 is the most common cause of prelingual hearing loss in East Asia. Patients with SLC26A4 mutations have variable phenotypes ranging from non-syndromic hearing loss to Pendred syndrome. Here, we analyzed the correlation between genotype and various inner ear phenotypes and found a possible underlying...

journal_title：Clinical genetics

authors： Lee HJ,Jung J,Shin JW,Song MH,Kim SH,Lee JH,Lee KA,Shin S,Kim UK,Bok J,Lee KY,Choi JY,Park HJ

更新日期：2014-09-01 00:00:00

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：:A study of the family of a patient who had an SLE-like syndrome and an extremely low serum C4 revealed an inheritance of C4 types and HLA region markers which indicated that the patient had 60--70% of "normal" C4 level prior to the onset of disease. Thus the extremely low C4 level during her disease may result from a ...

journal_title：Clinical genetics

authors： Cream JJ,Olaisen B,Teisberg P,Soler AV,Thompson RA

更新日期：1979-11-01 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：:Skraban-Deardorff syndrome (a disease related to variations in the WDR26 gene; OMIM #617616) was first described in a cohort of 15 individuals in 2017. The syndrome comprises intellectual deficiency, severe speech impairment, ataxic gait, seizures, mild hypotonia with feeding difficulties during infancy, and dysmorphi...

journal_title：Clinical genetics

authors： Cospain A,Schaefer E,Faoucher M,Dubourg C,Carré W,Bizaoui V,Assoumani J,Van Maldergem L,Piton A,Gérard B,Mau-Them FT,Bruel AL,Faivre L,Demurger F,Pasquier L,Odent S,Fradin M,Lavillaureix A

更新日期：2021-01-28 00:00:00

abstract：:Disorders of sex development (DSD) are rare disorders in which there is discordance between chromosomal, gonadal, and phenotypic sex. Only a minority of patients clinically diagnosed with DSD obtains a molecular diagnosis, leaving a large gap in our understanding of the prevalence, management, and outcomes in affected...

journal_title：Clinical genetics

authors： Arboleda VA,Lee H,Sánchez FJ,Délot EC,Sandberg DE,Grody WW,Nelson SF,Vilain E

更新日期：2013-01-01 00:00:00

abstract：:We report on two families in which one or two children had a severe disorder of skeletal development detected by prenatal ultrasonography. The children died postnatally and showed typical radiological and biochemical findings of perinatal hypophosphatasia. Biochemical analysis revealed a low activity of alkaline phosp...

journal_title：Clinical genetics

authors： Gehring B,Mornet E,Plath H,Hansmann M,Bartmann P,Brenner RE

更新日期：1999-10-01 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：:Reciprocal translocations were studied in two groups of balanced carrier couples: 202 had 210 translocation aneuploid between (LB) infants, and 95 couples had repetitive abortions (AB) without liveborn aneuploids. The observed translocation aneuploidies in the LB group were compared to predicted potential aneuploidies...

journal_title：Clinical genetics

authors： Davis JR,Rogers BB,Hagaman RM,Thies CA,Veomett IC

更新日期：1985-01-01 00:00:00

abstract：:The aim of this study was to search for SLC40A1 mutations in iron overloaded patients, which tested negative for HFE mutations and other iron-related genes. After a careful differential diagnosis, we selected 56 patients with unexplained iron overload whose phenotype could suggest the ferroportin disease. Iron overloa...

journal_title：Clinical genetics

authors： Pelucchi S,Mariani R,Salvioni A,Bonfadini S,Riva A,Bertola F,Trombini P,Piperno A

更新日期：2008-02-01 00:00:00

abstract：:A two-year-old female with the Pierre Robin anomaly and bilateral index finger malformations is described. Hypertelorism, full cheeks, posteriorly rotated ears with prominent antihelix, short neck, simian creases, bilateral fifth finger clinodactyly, and short toes with hypoplastic small nails were also present. Her m...

journal_title：Clinical genetics

authors： Dignan PS,Martin LW,Zenni EJ Jr

更新日期：1986-02-01 00:00:00

abstract：:Several sequence variations were examined for being endogenous "risk markers" in the development of CHD. The "markers" in this study included: the PstI-SstI RFLPs in the apo AI-CIII gene cluster, the EcoRI-MspI RFLPs in the apo B100 gene and the SstI RFLP in the 5' flanking region of the insulin gene. The study popula...

journal_title：Clinical genetics

authors： Wick U,Witt E,Engel W

更新日期：1995-04-01 00:00:00

abstract：:A family is described in which a mother and her two children carry a tandem duplication of the short arm of chromosome 8. Their phenotypes are similar and characterised by distinct facial dysmorphism, small stature and mild mental retardation. This is one of the first cases of direct familial transmission of a partial...

journal_title：Clinical genetics

authors： Dhooge C,Van Roy N,Craen M,Speleman F

更新日期：1994-01-01 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：BACKGROUND:Mutations in the DNAJB6 gene have been identified as a rare cause of dominantly inherited limb-girdle muscular dystrophy or distal-onset myopathy. MATERIALS AND METHODS:Exome sequencing was performed to investigate a Taiwanese family with a dominantly inherited distal-onset myopathy. Functional effects of t...

journal_title：Clinical genetics

authors： Tsai PC,Tsai YS,Soong BW,Huang YH,Wu HT,Chen YH,Lin KP,Liao YC,Lee YC

更新日期：2017-08-01 00:00:00

abstract：:The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46,XX,del(11)(q23). The main clinical manifestations included: ocular colobomata, absent philtrum, severe congenital heart disease, contractures of the large joints and skin pigm...

journal_title：Clinical genetics

authors： Kaffe S,Hsu LY,Sachdev RK,Philips J,Hirschhorn K

更新日期：1977-12-01 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：: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：:In the Arab population of Kuwait of approximately 1.3 million, 26 cases in 15 families were ascertained to have Bardet-Biedl syndrome (20 cases in 13 families) or Laurence-Moon syndrome (6 cases in 2 families). The apparently increased frequency of these interrelated autosomal recessive syndromes in Arabs is discussed...

journal_title：Clinical genetics

authors： Farag TI,Teebi AS

更新日期：1988-02-01 00:00:00