Genetic landmarks through philately: Woodrow Wilson 'Woody' Guthrie and Huntington disease.

abstract：:The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. We report on a male patient with the clinical features of the syndrome. In addition, he had a Dandy-Walker...

journal_title：Clinical genetics

authors： Schrander-Stumpel C,de Die-Smulders C,de Krom M,Schyns-Fleuran S,Hamel B,Jaeken D,Fryns JP

更新日期：1993-06-01 00:00:00

abstract：:A unique substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen was identified in a proband with Ehlers-Danlos syndrome type IV. The substitution was due to the transition of G 3302 to A in alpha 1(III) cDNA which is encoded by exon 46 of COL3A1. It resulted in a severe deficien...

journal_title：Clinical genetics

authors： McGrory J,Weksberg R,Thorner P,Cole WG

更新日期：1996-12-01 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：:Lipoprotein(a) [Lp(a)] is an important genetic trait associated with cardiovascular disease. While Lp(a) levels have been demonstrated to be approximately twice as high in black adults and children compared with whites, this relationship has not been assessed in the elderly. During the 1987 recall of the Charleston He...

journal_title：Clinical genetics

authors： Knapp RG,Schreiner PJ,Sutherland SE,Keil JE,Gilbert GE,Klein RL,Hames C,Tyroler HA

更新日期：1993-11-01 00:00:00

abstract：:The 15q13.3 microdeletion syndrome (OMIM #612001) is characterized by a wide range of phenotypic features, including intellectual disability, seizures, autism, and psychiatric conditions. This deletion is inherited in approximately 75% of cases and has been found in mildly affected and normal parents, consistent with ...

journal_title：Clinical genetics

authors： Hoppman-Chaney N,Wain K,Seger PR,Superneau DW,Hodge JC

更新日期：2013-04-01 00:00:00

abstract：:The locus DXS255 was studied using the probe M27 beta in ten probands with Rett syndrome and in eight of their families. No evidence of uniparental disomy of the X chromosome was detected, as all informative probands had inherited an allele from each of their parents. Differential methylation of a CCGG site within the...

journal_title：Clinical genetics

authors： Webb T,Watkiss E,Woods CG

更新日期：1993-11-01 00:00:00

abstract：BACKGROUND:For clinical genetic testing of cardiomyopathy (CMP), current guidelines do not address which gene panels to use: targeted panels specific to a CMP phenotype or expanded (panCMP) panels that include genes associated with multiple phenotypic subtypes. AIM:Our objective was to assess the clinical utility of t...

journal_title：Clinical genetics

authors： Ouellette AC,Mathew J,Manickaraj AK,Manase G,Zahavich L,Wilson J,George K,Benson L,Bowdin S,Mital S

更新日期：2018-01-01 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：:We have previously described four DNaseI hypersensitive sites (DH 1 to DH4) in the 40-kb intergenic region between the plasminogen gene and the apo(a) gene. Here, we wanted to analyse whether any of these sites, located 4, 21, 28 and 34 kb upstream of the apo(a) transcriptional start site, would act as an enhancer on ...

journal_title：Clinical genetics

authors： Acquati F,Rönicke V,Taramelli R,Müller HJ

更新日期：1997-11-01 00:00:00

abstract：:Most microdeletion syndromes identified before the implementation of array-comparative genomic hybridization (array-CGH) were presumed to be well-defined clinical entities. However, the introduction of whole-genome screening led not only to the description of new syndromes but also to the recognition of a broader spec...

journal_title：Clinical genetics

authors： Mosca-Boidron AL,Bouquillon S,Faivre L,Callier P,Andrieux J,Marle N,Bonnet C,Vincent-Delorme C,Berri M,Plessis G,Manouvrier-Hanu S,Dieux-Coeslier A,Thauvin-Robinet C,Pipiras E,Delahaye A,Payet M,Ragon C,Masurel-Paulet A

更新日期：2012-07-01 00:00:00

abstract：:The clinical impact of duplications affecting the 11p15.5 region is difficult to predict, and depends on the parent-of-origin of the affected allele as well as on the type (deletion, duplication), the extent and genomic content of the variant. Three unrelated families with inheritance of duplications affecting the IC1...

journal_title：Clinical genetics

authors： Eggermann T,Kraft F,Kloth K,Klopocki E,Hüning I,Hempel M,Kunstmann E

更新日期：2020-10-01 00:00:00

abstract：:Thyroid function has been studied in 121 patients between 13 and 48 years old with proven Down syndrome. Chemically, hypothyroidism was found in 17% and hyperthyroidism in 2.5% of the patients; 18% of patients had goiter. Thyroid antibodies were detected in 33% of subjects studied. The abnormal findings were almost eq...

journal_title：Clinical genetics

authors： Sare Z,Ruvalcaba RH,Kelley VC

更新日期：1978-09-01 00:00:00

abstract：:Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features and cognitive deficit. Mutations in two genes, CREBBP and EP300, encoding two homologous transcriptional co-activators, have been identified in ˜55...

journal_title：Clinical genetics

authors： Negri G,Milani D,Colapietro P,Forzano F,Della Monica M,Rusconi D,Consonni L,Caffi LG,Finelli P,Scarano G,Magnani C,Selicorni A,Spena S,Larizza L,Gervasini C

更新日期：2015-02-01 00:00:00

abstract：:Neurodevelopmental and psychological aspects in a child with 49XYYYY karotype are described. The developmental examination revealed mild mental retardation (I.Q.=50), disturbances in gross and fine motor development and speech disorders. The child was treated by developmental therapy which improved his abilities for a...

journal_title：Clinical genetics

authors： Sirota L,Shaghapour SE,Elitzur A,Sirota P

更新日期：1986-12-01 00:00:00

abstract：:RUNX2 (Runt-related transcription factor 2) is a master regulator of osteoblast differentiation, cartilage and bone development. Pathogenic variants in RUNX2 have been linked to the Cleidocranial dysplasia (CCD), which is characterized by hypoplasia or aplasia of clavicles, delayed fontanelle closure, and dental anoma...

journal_title：Clinical genetics

authors： Hordyjewska-Kowalczyk E,Sowińska-Seidler A,Olech EM,Socha M,Glazar R,Kruczek A,Latos-Bieleńska A,Tylzanowski P,Jamsheer A

更新日期：2019-11-01 00:00:00

abstract：:It has been reported that the frequency of congenital heart defects (CHD) in children of an affected parent is now three to five times what it was 20 years ago. One conceivable cause of this is that patients with CHD of a severity that would have precluded parenthood before the advent of treatment are now able to (and...

journal_title：Clinical genetics

authors： Gold RJ,Rose V,Yau Y

更新日期：1987-09-01 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：:Despite a wide range of clinical tools, the etiology of mental retardation and multiple congenital malformations remains unknown for many patients. Array-based comparative genomic hybridization (aCGH) has proven to be a valuable tool in these cases, as its pangenomic coverage allows the identification of chromosomal a...

journal_title：Clinical genetics

authors： D'Amours G,Kibar Z,Mathonnet G,Fetni R,Tihy F,Désilets V,Nizard S,Michaud JL,Lemyre E

更新日期：2012-02-01 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：: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：:The frequency of rare fragile sites was studied among 240 children in special schools for subnormal intelligence (IQ 52-85). 1/130 boys studied (0.8%) had the fragile site at Xq27.3 while it was not found in any girl (0/110). In two children an autosomal rare fragile site at 2q11.2 (2/240, 0.8%) was seen. In addition ...

journal_title：Clinical genetics

authors： Kähkönen M,Leisti J,Thoden CJ,Autio S

更新日期：1986-09-01 00:00:00

abstract：:We provide data on fetal growth pattern on the molecular subtypes of Beckwith-Wiedemann syndrome (BWS): IC1 gain of methylation (IC1-GoM), IC2 loss of methylation (IC2-LoM), 11p15.5 paternal uniparental disomy (UPD), and CDKN1C mutation. In this observational study, gestational ages and neonatal growth parameters of 2...

journal_title：Clinical genetics

authors： Mussa A,Russo S,de Crescenzo A,Freschi A,Calzari L,Maitz S,Macchiaiolo M,Molinatto C,Baldassarre G,Mariani M,Tarani L,Bedeschi MF,Milani D,Melis D,Bartuli A,Cubellis MV,Selicorni A,Silengo MC,Larizza L,Riccio A,Fe

更新日期：2016-07-01 00:00:00

abstract：:Complex microphthalmia is characterized by small eyes with additional abnormalities that may include anterior segment dysgenesis. While many genes are known, a genetic cause is identified in only 4-30% of microphthalmia, with the lowest rate in unilateral cases. We identified four novel pathogenic loss-of-function all...

journal_title：Clinical genetics

authors： Reis LM,Costakos D,Wheeler PG,Bardakjian T,Schneider A,Fung SSM,University of Washington Center for Mendelian Genomics.,Semina EV

更新日期：2020-12-13 00:00:00

abstract：:A total of 509 specimens of spontaneous abortion were studied. Of 364 complete specimens, 15 (4.1%) had central nervous system (CNS) abnormalities. The defects which were seen were anencephaly, spina bifida, iniencephaly, encephalocele and anencephaly combined with complete rachischisis. A high proportion (five out of...

journal_title：Clinical genetics

authors： Bell JE,Gosden CM

更新日期：1978-05-01 00:00:00

abstract：:A sibship is reported of three generations of a Jordanian family of normal intelligence with a complex malformation of upper extremity, shoulder and thorax, which is combined with variously expressed congenital heart disease. The deformity consists of a flat glenoid fossa, a hypoplastic scapula, aplasia of the humerus...

journal_title：Clinical genetics

authors： Boehme DH,Shotar AO

更新日期：1989-12-01 00:00:00

abstract：:46,XY gonadal dysgenesis was transmitted as an autosomal-dominant trait in a large family with multiple affected members. Expressivity of the trait was highly variable, ranging from pure to partial gonadal dysgenesis associated with normal female genitalia or sexual ambiguity, to mild hypospadias in otherwise normal m...

journal_title：Clinical genetics

authors： Jawaheer D,Juo SH,Le Caignec C,David A,Petit C,Gregersen P,Dowbak S,Damle A,McElreavey K,Ostrer H

更新日期：2003-06-01 00:00:00

abstract：:Emery-Dreifuss muscular dystrophy (EDMD) is a heterogeneous genetic disorder characterized by peripheral muscular weakness often associated with dilated cardiomyopathy. We characterize clinically a large family with a mutation in FHL1 gene (p.Cys255Ser). Penetrance was 44%, 100% for males and 18% for females. The hear...

journal_title：Clinical genetics

authors： San Román I,Navarro M,Martínez F,Albert L,Polo L,Guardiola J,García-Molina E,Muñoz-Esparza C,López-Ayala JM,Sabater-Molina M,Gimeno JR

更新日期：2016-08-01 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：:Metacarpophalangeal pattern profile (MCPP) analysis was applied to patients with Pfeiffer and Chotzen syndromes, dominantly inherited types of acrocephalosyndactyly (ACS). A characteristic MCPP was obtained for the group. However, it did not discriminate between patients with Chotzen syndrome and those with Pfeiffer s...

journal_title：Clinical genetics

authors： Escobar V,Bixler D

更新日期：1977-04-01 00:00:00

abstract：:Macular corneal dystrophy (MCD) is an autosomal recessive disease characterized by corneal opacities and caused by mutations in a carbohydrate sulfotransferase gene, known as CHST6. MCD type I patients show missense mutations in the CHST6-coding region, and MCD type II patients show a large deletion and replacement in...

journal_title：Clinical genetics

authors： Abbruzzese C,Kuhn U,Molina F,Rama P,De Luca M

更新日期：2004-02-01 00:00:00